#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANK3	288	genome.wustl.edu	37	10	61834851	61834851	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr10:61834851G>C	ENST00000280772.2	-	37	5979	c.5788C>G	c.(5788-5790)Caa>Gaa	p.Q1930E	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1930					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTTCAGGTTGGAATGGCTTC	0.403																																						dbGAP											0													102.0	91.0	95.0					10																	61834851		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5788C>G	10.37:g.61834851G>C	ENSP00000280772:p.Gln1930Glu		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.Q1930E	ENST00000280772.2	37	c.5788	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823304	0.50739	.	.	ENSG00000151150	ENST00000280772	T	0.62788	0.0	5.83	5.83	0.93111	.	0.000000	0.40469	N	0.001098	T	0.53722	0.1814	L	0.43152	1.355	0.80722	D	1	B	0.19817	0.039	B	0.16722	0.016	T	0.53802	-0.8387	10	0.02654	T	1	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	1930	Q12955	ANK3_HUMAN	E	1930	ENSP00000280772:Q1930E	ENSP00000280772:Q1930E	Q	-	1	0	ANK3	61504857	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.661000	0.74422	2.758000	0.94735	0.655000	0.94253	CAA	ANK3	-	NULL	ENSG00000151150		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	217	0.00	0	G	NM_020987		61834851	61834851	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	207	45.12	171	SNP	1.000	C
CASK	8573	genome.wustl.edu	37	X	41379771	41379771	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chrX:41379771T>C	ENST00000378163.1	-	27	3157	c.2683A>G	c.(2683-2685)Atc>Gtc	p.I895V	CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000378158.1_Missense_Mutation_p.I878V|CASK_ENST00000421587.2_Missense_Mutation_p.I866V|CASK_ENST00000361962.4_Missense_Mutation_p.I878V|CASK_ENST00000442742.2_Missense_Mutation_p.I867V|CASK_ENST00000378166.4_Missense_Mutation_p.I890V|CASK_ENST00000318588.9_Missense_Mutation_p.I890V			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	895	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TCATTGTTGATAATTGTGAGA	0.468																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											0													135.0	108.0	117.0					X																	41379771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2683A>G	X.37:g.41379771T>C	ENSP00000367405:p.Ile895Val		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.I895V	ENST00000378163.1	37	c.2683		X	.	.	.	.	.	.	.	.	.	.	T	0.509	-0.867350	0.02590	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.56097	D	0.000021	T	0.04318	0.0119	N	0.00205	-1.85	0.80722	D	1	B;B;B;B;B	0.14805	0.002;0.011;0.001;0.001;0.0	B;B;B;B;B	0.26094	0.002;0.066;0.001;0.001;0.001	T	0.38714	-0.9648	10	0.02654	T	1	.	15.168	0.72842	0.0:0.0:0.0:1.0	.	866;867;890;895;487	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	V	866;890;878;895;487;350;878;890;867	ENSP00000400526:I866V;ENSP00000322727:I890V;ENSP00000354641:I878V;ENSP00000367405:I895V;ENSP00000367421:I487V;ENSP00000367410:I350V;ENSP00000367400:I878V;ENSP00000367408:I890V;ENSP00000398007:I867V	ENSP00000322727:I890V	I	-	1	0	CASK	41264715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.965000	0.57142	0.486000	0.48141	ATC	CASK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000147044		0.468	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	165	0.00	0	T	NM_003688		41379771	41379771	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	127	32.09	60	SNP	1.000	C
CNTFR	1271	genome.wustl.edu	37	9	34564705	34564705	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr9:34564705C>T	ENST00000378980.3	-	4	504	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	CNTFR_ENST00000351266.4_Missense_Mutation_p.G71S	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	71	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGCTGAGAGCCGTTGAGCAGG	0.637																																						dbGAP											0													92.0	72.0	79.0					9																	34564705		2203	4300	6503	-	-	-	SO:0001583	missense	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.211G>A	9.37:g.34564705C>T	ENSP00000368265:p.Gly71Ser		Q5U050	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G71S	ENST00000378980.3	37	c.211	CCDS6558.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.200742	0.94997	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.30981	1.51;1.51;1.51	5.26	5.26	0.73747	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000011	T	0.54382	0.1855	M	0.75264	2.295	0.40185	D	0.977335	D	0.89917	1.0	D	0.85130	0.997	T	0.51092	-0.8749	9	0.20519	T	0.43	.	16.3749	0.83382	0.0:1.0:0.0:0.0	.	71	P26992	CNTFR_HUMAN	S	71	ENSP00000368265:G71S;ENSP00000242338:G71S;ENSP00000388082:G71S	ENSP00000242338:G71S	G	-	1	0	CNTFR	34554705	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.073000	0.57570	2.453000	0.82957	0.467000	0.42956	GGC	CNTFR	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000122756		0.637	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	54	0.00	0	C			34564705	34564705	-1	no_errors	ENST00000351266	ensembl	human	known	69_37n	missense	122	14.58	21	SNP	1.000	T
CPEB2	132864	genome.wustl.edu	37	4	15067943	15067943	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr4:15067943A>G	ENST00000507071.1	+	11	1796	c.1709A>G	c.(1708-1710)cAt>cGt	p.H570R	CPEB2_ENST00000382395.3_Missense_Mutation_p.H548R|CPEB2_ENST00000345451.3_Missense_Mutation_p.H540R|CPEB2_ENST00000382401.3_Missense_Mutation_p.H543R|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.H578R|CPEB2_ENST00000442003.2_Missense_Mutation_p.H988R|CPEB2_ENST00000541112.1_Missense_Mutation_p.H1007R|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.H1015R			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	570					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTGAGTTCCATAAGCCATTG	0.458																																						dbGAP											0													136.0	121.0	126.0					4																	15067943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1709A>G	4.37:g.15067943A>G	ENSP00000424084:p.His570Arg		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H1015R	ENST00000507071.1	37	c.3044		4	.	.	.	.	.	.	.	.	.	.	A	16.36	3.100341	0.56183	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.04;-1.03;-0.82;-0.85;-0.84;-0.85;-0.97	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;0.998;1.0;0.999;0.998;0.99	D;D;D;D;D;D	0.97110	0.964;0.995;0.999;1.0;0.995;0.962	D	0.91270	0.5043	10	0.87932	D	0	-20.3294	16.8061	0.85666	1.0:0.0:0.0:0.0	.	543;548;988;1015;540;570	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	R	1015;1007;988;570;540;548;543;578;557	ENSP00000443985:H1015R;ENSP00000437884:H1007R;ENSP00000414270:H988R;ENSP00000424084:H570R;ENSP00000334058:H540R;ENSP00000371832:H548R;ENSP00000371838:H543R;ENSP00000259997:H578R	ENSP00000259997:H578R	H	+	2	0	CPEB2	14677041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	CAT	CPEB2	-	NULL	ENSG00000137449		0.458	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	193	0.00	0	A	XM_059607		15067943	15067943	+1	no_errors	ENST00000538197	ensembl	human	known	69_37n	missense	161	22.97	48	SNP	1.000	G
CSTL1	128817	genome.wustl.edu	37	20	23420938	23420938	+	Silent	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr20:23420938C>T	ENST00000246020.2	+	1	54	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Silent_p.L12L			Q9H114	CST1L_HUMAN	cystatin-like 1	12						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CCCCCTGCTGCTGCTGATTGC	0.547																																						dbGAP											0													104.0	88.0	94.0					20																	23420938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.34C>T	20.37:g.23420938C>T			Q17RA8|Q64FF7	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L12	ENST00000246020.2	37	c.34	CCDS13153.1	20																																																																																			CSTL1	-	NULL	ENSG00000125823		0.547	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTL1	HGNC	protein_coding	OTTHUMT00000078328.1	88	0.00	0	C			23420938	23420938	+1	no_errors	ENST00000246020	ensembl	human	known	69_37n	silent	160	11.60	21	SNP	0.954	T
CXorf58	254158	genome.wustl.edu	37	X	23956735	23956735	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chrX:23956735G>A	ENST00000379211.3	+	8	1406	c.857G>A	c.(856-858)cGt>cAt	p.R286H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	286										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCTGGGTCGTCGATCCAAG	0.338																																						dbGAP											0													91.0	89.0	90.0					X																	23956735		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.857G>A	X.37:g.23956735G>A	ENSP00000368511:p.Arg286His			Missense_Mutation	SNP	NULL	p.R286H	ENST00000379211.3	37	c.857	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323596	0.24080	.	.	ENSG00000165182	ENST00000379211	T	0.32753	1.44	4.76	2.99	0.34606	.	0.336013	0.24909	N	0.034635	T	0.47303	0.1438	M	0.68952	2.095	0.09310	N	1	D;D	0.89917	0.968;1.0	P;D	0.68039	0.475;0.955	T	0.30208	-0.9986	10	0.87932	D	0	-3.4119	7.7775	0.29046	0.2044:0.0:0.7956:0.0	.	286;286	B7ZLS7;Q96LI9	.;CX058_HUMAN	H	286	ENSP00000368511:R286H	ENSP00000368511:R286H	R	+	2	0	CXorf58	23866656	0.997000	0.39634	0.003000	0.11579	0.040000	0.13550	2.198000	0.42705	0.543000	0.28864	0.523000	0.50628	CGT	CXorf58	-	NULL	ENSG00000165182		0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	HGNC	protein_coding	OTTHUMT00000056071.1	152	0.00	0	G	NM_152761		23956735	23956735	+1	no_errors	ENST00000379211	ensembl	human	known	69_37n	missense	96	20.00	24	SNP	0.037	A
DCAF8	50717	genome.wustl.edu	37	1	160210108	160210108	+	Silent	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr1:160210108C>T	ENST00000368073.3	-	4	536	c.102G>A	c.(100-102)gaG>gaA	p.E34E	DCAF8_ENST00000608310.1_Silent_p.E188E|DCAF8_ENST00000610139.1_Silent_p.E34E|DCAF8_ENST00000556710.1_Silent_p.E188E|DCAF8_ENST00000368074.1_Silent_p.E34E|DCAF8_ENST00000326837.2_Silent_p.E34E|DCAF8_ENST00000475733.1_Silent_p.E34E			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	34					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTGAGGATGTCTCCCTCCCCT	0.537																																						dbGAP											0													73.0	60.0	64.0					1																	160210108		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.102G>A	1.37:g.160210108C>T			D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Silent	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E188	ENST00000368073.3	37	c.564	CCDS1200.1	1																																																																																			DCAF8	-	NULL	ENSG00000132716		0.537	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	63	0.00	0	C	NM_015726		160210108	160210108	-1	no_errors	ENST00000555195	ensembl	human	known	69_37n	silent	100	20.00	25	SNP	1.000	T
FAM182B	728882	genome.wustl.edu	37	20	25755889	25755889	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr20:25755889A>T	ENST00000376403.1	-	3	445	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	FAM182B_ENST00000376404.2_Missense_Mutation_p.C20S|FAM182B_ENST00000478164.1_5'UTR			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	23										lung(1)	1						CCCCAAGTGCAGATCCCCACT	0.537																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.67T>A	20.37:g.25755889A>T	ENSP00000365585:p.Cys23Ser		Q4G0Q1	Missense_Mutation	SNP	NULL	p.C20S	ENST00000376403.1	37	c.58		20	.	.	.	.	.	.	.	.	.	.	.	1.540	-0.542008	0.04053	.	.	ENSG00000175170	ENST00000376404;ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	3	0.02654	T	1	.	.	.	.	.	.	.	.	S	20;23	.	ENSP00000365585:C23S	C	-	1	0	FAM182B	25703889	0.013000	0.17824	0.333000	0.25482	0.339000	0.28857	-0.113000	0.10774	0.056000	0.16144	0.055000	0.15244	TGC	FAM182B	-	NULL	ENSG00000175170		0.537	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	46	0.00	0	A	NR_026714		25755889	25755889	-1	no_errors	ENST00000376404	ensembl	human	known	69_37n	missense	67	44.17	53	SNP	0.337	T
GATA3	2625	genome.wustl.edu	37	10	8115955	8115956	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr10:8115955_8115956insCC	ENST00000346208.3	+	6	1756_1757	c.1301_1302insCC	c.(1300-1305)caccccfs	p.HP434fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.HP435fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	434					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGACCACACCACCCCTCCAGCA	0.629			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1304_1305dupCC	10.37:g.8115958_8115959dupCC	ENSP00000341619:p.His434fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S437fs	ENST00000346208.3	37	c.1304_1305	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.629	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	71	0.00	0	-	NM_001002295		8115955	8115956	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	79	26.17	28	INS	1.000:0.921	CC
HECTD4	283450	genome.wustl.edu	37	12	112622620	112622620	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr12:112622620C>T	ENST00000430131.2	-	60	10029	c.8884G>A	c.(8884-8886)Gat>Aat	p.D2962N	HECTD4_ENST00000550722.1_Missense_Mutation_p.D3238N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D3212N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2962					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D2962N(1)|p.D3212N(1)									TGGCAGGCATCGGCGATGGCG	0.682																																						dbGAP											2	Substitution - Missense(2)	lung(2)											87.0	108.0	101.0					12																	112622620		2177	4264	6441	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8884G>A	12.37:g.112622620C>T	ENSP00000404379:p.Asp2962Asn		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.D3212N	ENST00000430131.2	37	c.9634		12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954690	0.92726	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.62788	0.01;0.03;-0.0	5.61	5.61	0.85477	.	.	.	.	.	T	0.71169	0.3308	L	0.29908	0.895	0.58432	D	0.999998	D	0.76494	0.999	D	0.68621	0.959	T	0.74054	-0.3788	9	0.87932	D	0	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	2962	Q9Y4D8	K0614_HUMAN	N	3212;2962;3238	ENSP00000366783:D3212N;ENSP00000404379:D2962N;ENSP00000449784:D3238N	ENSP00000366783:D3212N	D	-	1	0	C12orf51	111107003	1.000000	0.71417	0.877000	0.34402	0.640000	0.38277	7.065000	0.76727	2.643000	0.89663	0.650000	0.86243	GAT	HECTD4	-	NULL	ENSG00000173064		0.682	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		59	0.00	0	C	NM_173813		112622620	112622620	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	131	22.02	37	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158054332	158054332	+	Missense_Mutation	SNP	G	G	A	rs191023947		TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr1:158054332G>A	ENST00000359209.6	+	4	540	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.R158Q|KIRREL_ENST00000368172.1_5'Flank|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Missense_Mutation_p.R58Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	158	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATCTGGTTCCGGGACGGGACG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17205	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													53.0	59.0	57.0					1																	158054332		692	1591	2283	-	-	-	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.473G>A	1.37:g.158054332G>A	ENSP00000352138:p.Arg158Gln		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R158Q	ENST00000359209.6	37	c.473	CCDS1172.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.3	4.911704	0.92178	.	.	ENSG00000183853	ENST00000368173;ENST00000359209;ENST00000416935	D;D;D	0.87334	-2.24;-2.24;-2.24	5.77	5.77	0.91146	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38720	N	0.001600	D	0.87156	0.6107	M	0.66506	2.035	0.40646	D	0.981995	D;D	0.59357	0.958;0.985	P;P	0.49829	0.623;0.572	D	0.86983	0.2105	10	0.45353	T	0.12	-28.6649	17.4764	0.87660	0.0:0.0:1.0:0.0	.	58;158	B4DN67;Q96J84	.;KIRR1_HUMAN	Q	158;158;58	ENSP00000357155:R158Q;ENSP00000352138:R158Q;ENSP00000389674:R58Q	ENSP00000352138:R158Q	R	+	2	0	KIRREL	156320956	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.201000	0.58439	2.734000	0.93682	0.650000	0.86243	CGG	KIRREL	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000183853		0.652	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	41	0.00	0	G	NM_018240		158054332	158054332	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	missense	112	29.56	47	SNP	1.000	A
KLK15	55554	genome.wustl.edu	37	19	51329938	51329938	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr19:51329938C>T	ENST00000598239.1	-	4	587	c.557G>A	c.(556-558)gGg>gAg	p.G186E	KLK15_ENST00000301421.2_Intron|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000326856.4_Missense_Mutation_p.G185E|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGTCAGGCGCCCTGGGTAGCT	0.572																																					Pancreas(140;10 2513 7143 9246)	dbGAP											0													113.0	106.0	109.0					19																	51329938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.557G>A	19.37:g.51329938C>T	ENSP00000469315:p.Gly186Glu		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G186E	ENST00000598239.1	37	c.557	CCDS12805.1	19	.	.	.	.	.	.	.	.	.	.	c	12.97	2.097674	0.37048	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.52	4.52	0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45867	D	0.000326	T	0.66356	0.2781	L	0.35288	1.05	0.80722	D	1	P;D	0.89917	0.941;1.0	P;D	0.87578	0.733;0.998	T	0.69580	-0.5107	9	0.72032	D	0.01	.	15.1255	0.72481	0.0:1.0:0.0:0.0	.	185;186	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	E	186	.	ENSP00000314783:G186E	G	-	2	0	KLK15	56021750	0.074000	0.21230	0.117000	0.21633	0.014000	0.08584	2.524000	0.45589	2.526000	0.85167	0.455000	0.32223	GGG	KLK15	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000174562		0.572	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	88	0.00	0	C	NM_017509		51329938	51329938	-1	no_errors	ENST00000326856	ensembl	human	known	69_37n	missense	120	22.58	35	SNP	0.593	T
L1CAM	3897	genome.wustl.edu	37	X	153132281	153132281	+	Missense_Mutation	SNP	C	C	T	rs137852525		TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chrX:153132281C>T	ENST00000370060.1	-	19	2443	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	L1CAM_ENST00000370057.3_Missense_Mutation_p.V752M|L1CAM_ENST00000543994.1_Missense_Mutation_p.V754M|L1CAM_ENST00000361699.4_Missense_Mutation_p.V752M|L1CAM_ENST00000538883.1_Missense_Mutation_p.V754M|L1CAM_ENST00000361981.3_Missense_Mutation_p.V747M|L1CAM_ENST00000370055.1_Missense_Mutation_p.V747M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	752	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> M (in MASA; also in a patient with hydrocephalus and Hirschsprung disease). {ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:9268105}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCACTGCACGCGGTACTGA	0.627																																						dbGAP											0			GRCh37	CM970859	L1CAM	M	rs137852525						46.0	43.0	44.0					X																	153132281		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2254G>A	X.37:g.153132281C>T	ENSP00000359077:p.Val752Met		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	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.V754M	ENST00000370060.1	37	c.2260	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.253076	0.95336	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.43	5.43	0.79202	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000049	D	0.86167	0.5868	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.89692	0.3898	10	0.87932	D	0	.	16.9733	0.86306	0.0:1.0:0.0:0.0	.	747;752;752	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	752;754;752;754;747;747;752	ENSP00000359077:V752M;ENSP00000438430:V754M;ENSP00000359074:V752M;ENSP00000439645:V754M;ENSP00000354712:V747M;ENSP00000359072:V747M;ENSP00000355380:V752M	ENSP00000355380:V752M	V	-	1	0	L1CAM	152785475	1.000000	0.71417	0.599000	0.28851	0.966000	0.64601	7.467000	0.80930	2.270000	0.75569	0.529000	0.55759	GTG	L1CAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000198910		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	61	0.00	0	C	NM_024003		153132281	153132281	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.999	T
LRBA	987	genome.wustl.edu	37	4	151821369	151821369	+	Splice_Site	SNP	C	C	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr4:151821369C>A	ENST00000357115.3	-	14	1999	c.1756G>T	c.(1756-1758)Gtt>Ttt	p.V586F	LRBA_ENST00000535741.1_Splice_Site_p.V586F|LRBA_ENST00000507224.1_Splice_Site_p.V586F|LRBA_ENST00000510413.1_Splice_Site_p.V586F	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	586						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCAGTTGAACCTACAGAATA	0.393																																						dbGAP											0													81.0	79.0	80.0					4																	151821369		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1756-1G>T	4.37:g.151821369C>A			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.V586F	ENST00000357115.3	37	c.1756	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190234	0.78789	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.61859	0.47;0.62;0.47;0.07	5.59	5.59	0.84812	Armadillo-type fold (1);	0.191807	0.32687	N	0.005778	T	0.70596	0.3242	L	0.55990	1.75	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.985	D;D;P	0.80764	0.994;0.96;0.816	T	0.70328	-0.4902	10	0.49607	T	0.09	.	13.833	0.63393	0.0:0.9267:0.0:0.0733	.	586;586;586	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	F	586	ENSP00000446299:V586F;ENSP00000421552:V586F;ENSP00000349629:V586F;ENSP00000422180:V586F	ENSP00000349629:V586F	V	-	1	0	LRBA	152040819	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	6.036000	0.70948	2.614000	0.88457	0.655000	0.94253	GTT	LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	92	0.00	0	C		Missense_Mutation	151821369	151821369	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170070247	170070247	+	Missense_Mutation	SNP	T	T	G			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr2:170070247T>G	ENST00000263816.3	-	36	6245	c.5960A>C	c.(5959-5961)gAt>gCt	p.D1987A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1987					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTGGCCTTATCAACTCTTTC	0.418																																						dbGAP											0													141.0	141.0	141.0					2																	170070247		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5960A>C	2.37:g.170070247T>G	ENSP00000263816:p.Asp1987Ala		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D1987A	ENST00000263816.3	37	c.5960	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079926	0.55753	.	.	ENSG00000081479	ENST00000263816	D	0.93811	-3.29	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.089524	0.85682	D	0.000000	D	0.96969	0.9010	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97415	1.0005	10	0.66056	D	0.02	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	1987	P98164	LRP2_HUMAN	A	1987	ENSP00000263816:D1987A	ENSP00000263816:D1987A	D	-	2	0	LRP2	169778493	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	6.102000	0.71486	2.284000	0.76573	0.528000	0.53228	GAT	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	150	0.00	0	T	NM_004525		170070247	170070247	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	171	11.40	22	SNP	1.000	G
PCDHA6	56142	genome.wustl.edu	37	5	140209165	140209165	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr5:140209165C>T	ENST00000529310.1	+	1	1603	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						dbGAP											0													46.0	55.0	52.0					5																	140209165		2202	4293	6495	-	-	-	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1489C>T	5.37:g.140209165C>T	ENSP00000433378:p.Arg497Trp		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R497W	ENST00000529310.1	37	c.1489	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426055	0.43020	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.52295	0.67;0.67	3.72	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.222920	0.20630	U	0.088606	T	0.59074	0.2167	M	0.62723	1.935	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.977;0.986;0.983	T	0.43766	-0.9371	10	0.87932	D	0	.	5.9617	0.19303	0.3319:0.4934:0.1747:0.0	.	497;497;497	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	497	ENSP00000433378:R497W;ENSP00000434113:R497W	ENSP00000434113:R497W	R	+	1	2	PCDHA6	140189349	0.986000	0.35501	1.000000	0.80357	0.739000	0.42172	0.473000	0.22132	2.061000	0.61500	0.313000	0.20887	CGG	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081842		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	18	0.00	0	C	NM_018909		140209165	140209165	+1	no_errors	ENST00000529310	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	0.192	T
SIDT2	51092	genome.wustl.edu	37	11	117063930	117063930	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr11:117063930A>G	ENST00000324225.4	+	23	2698	c.2167A>G	c.(2167-2169)Atc>Gtc	p.I723V	SIDT2_ENST00000431081.2_Missense_Mutation_p.I720V|SIDT2_ENST00000532062.1_Missense_Mutation_p.I15V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	723					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCCATTGGCATCTGCAACCT	0.557																																						dbGAP											0													392.0	371.0	378.0					11																	117063930		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2167A>G	11.37:g.117063930A>G	ENSP00000314023:p.Ile723Val		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.I744V	ENST00000324225.4	37	c.2230	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	23.9	4.471947	0.84533	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.69463	2.115	0.80722	D	1	D;D;P;D	0.89917	0.996;0.963;0.846;1.0	D;P;P;D	0.91635	0.978;0.812;0.842;0.999	T	0.45440	-0.9261	10	0.46703	T	0.11	-37.0085	15.3236	0.74141	1.0:0.0:0.0:0.0	.	744;720;723;744	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	V	723;744;720;77;61;15	ENSP00000314023:I723V;ENSP00000278951:I744V;ENSP00000399635:I720V;ENSP00000435890:I61V;ENSP00000432432:I15V	ENSP00000278951:I744V	I	+	1	0	SIDT2	116569140	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.087000	0.94110	2.281000	0.76405	0.533000	0.62120	ATC	SIDT2	-	NULL	ENSG00000149577		0.557	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	130	0.00	0	A	NM_015996		117063930	117063930	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	126	30.77	56	SNP	1.000	G
SLC44A3	126969	genome.wustl.edu	37	1	95293148	95293148	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr1:95293148G>A	ENST00000271227.6	+	4	466	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	SLC44A3_ENST00000532427.1_Intron|SLC44A3_ENST00000529450.1_Intron|SLC44A3_ENST00000530397.1_Intron|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000446120.2_Missense_Mutation_p.E86K|SLC44A3_ENST00000467909.1_Missense_Mutation_p.E74K	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	122					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CAACTGCCCTGAAGAGCAGCT	0.498																																						dbGAP											0													159.0	146.0	151.0					1																	95293148		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.364G>A	1.37:g.95293148G>A	ENSP00000271227:p.Glu122Lys		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.E122K	ENST00000271227.6	37	c.364	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391641	0.62066	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000467909;ENST00000422520	T;T;T;T	0.79940	-1.32;-1.32;2.73;-1.32	5.52	3.51	0.40186	.	0.192539	0.36815	N	0.002389	T	0.56834	0.2012	L	0.29908	0.895	0.80722	D	1	B;P	0.48407	0.203;0.91	B;B	0.42462	0.061;0.388	T	0.59343	-0.7472	10	0.35671	T	0.21	-22.3879	8.756	0.34645	0.0876:0.3023:0.61:0.0	.	86;122	Q8N4M1-3;Q8N4M1	.;CTL3_HUMAN	K	86;122;74;74	ENSP00000389143:E86K;ENSP00000271227:E122K;ENSP00000432789:E74K;ENSP00000410832:E74K	ENSP00000271227:E122K	E	+	1	0	SLC44A3	95065736	0.997000	0.39634	0.549000	0.28204	0.939000	0.58152	3.343000	0.52167	1.453000	0.47775	0.655000	0.94253	GAA	SLC44A3	-	NULL	ENSG00000143036		0.498	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	176	0.00	0	G	NM_152369		95293148	95293148	+1	no_errors	ENST00000271227	ensembl	human	known	69_37n	missense	198	25.84	69	SNP	0.691	A
SLFN14	342618	genome.wustl.edu	37	17	33884688	33884688	+	Missense_Mutation	SNP	G	G	A	rs199663871	byFrequency	TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr17:33884688G>A	ENST00000415846.3	-	1	429	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	132							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						ACATCTCTCCGATACAAATTG	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		20137	0.0		0.001	False		,,,				2504	0.001					dbGAP											0													39.0	30.0	32.0					17																	33884688		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.394C>T	17.37:g.33884688G>A	ENSP00000391101:p.Arg132Trp		B2RTW9	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.R132W	ENST00000415846.3	37	c.394	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	G	2.672	-0.277430	0.05679	.	.	ENSG00000236320	ENST00000415846	T	0.01947	4.54	4.19	-0.327	0.12694	.	.	.	.	.	T	0.01287	0.0042	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	B	0.32805	0.153	T	0.49624	-0.8920	9	0.38643	T	0.18	0.1383	2.518	0.04673	0.0958:0.1632:0.4054:0.3356	.	132	P0C7P3	SLN14_HUMAN	W	132	ENSP00000391101:R132W	ENSP00000391101:R132W	R	-	1	2	SLFN14	30908801	0.014000	0.17966	0.205000	0.23548	0.214000	0.24535	0.607000	0.24209	-0.092000	0.12417	-0.989000	0.02550	CGG	SLFN14	-	NULL	ENSG00000236320		0.493	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	71	0.00	0	G	NM_001129820		33884688	33884688	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	0.093	A
SNX5	27131	genome.wustl.edu	37	20	17928176	17928178	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr20:17928176_17928178delCTG	ENST00000377768.3	-	12	1342_1344	c.1030_1032delCAG	c.(1030-1032)cagdel	p.Q344del	SNX5_ENST00000377759.4_In_Frame_Del_p.Q344del|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	344	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GGCAGCACTCCTGCTGGTGTGCC	0.429																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.1030_1032delCAG	20.37:g.17928179_17928181delCTG	ENSP00000366998:p.Gln344del		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	In_Frame_Del	DEL	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.Q344in_frame_del	ENST00000377768.3	37	c.1032_1030	CCDS13130.1	20																																																																																			SNX5	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000089006		0.429	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	254	0.00	0	CTG			17928176	17928178	-1	no_errors	ENST00000377759	ensembl	human	known	69_37n	in_frame_del	273	19.47	66	DEL	1.000:1.000:1.000	-
STK11IP	114790	genome.wustl.edu	37	2	220479255	220479255	+	Silent	SNP	G	G	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr2:220479255G>A	ENST00000456909.1	+	23	2946	c.2856G>A	c.(2854-2856)gcG>gcA	p.A952A	STK11IP_ENST00000295641.10_Silent_p.A963A			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	963					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTCGGGCGTTCCTGGTTG	0.567																																						dbGAP											0													84.0	87.0	86.0					2																	220479255		2016	4183	6199	-	-	-	SO:0001819	synonymous_variant	0			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2856G>A	2.37:g.220479255G>A			Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.V145I	ENST00000456909.1	37	c.433		2	.	.	.	.	.	.	.	.	.	.	G	7.912	0.736770	0.15574	.	.	ENSG00000144589	ENST00000447191	.	.	.	4.72	0.835	0.18886	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.43448	D	0.995636	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-1.4432	4.4481	0.11607	0.2834:0.1707:0.5459:0.0	.	.	.	.	H	52	.	.	R	+	2	0	STK11IP	220187499	0.064000	0.20934	0.238000	0.24106	0.932000	0.56968	-0.118000	0.10692	-0.028000	0.13850	-0.123000	0.14984	CGT	STK11IP	-	NULL	ENSG00000144589		0.567	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	146	0.00	0	G	NM_052902		220479255	220479255	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000413891	ensembl	human	known	69_37n	missense	199	23.66	62	SNP	0.278	A
SYNE1	23345	genome.wustl.edu	37	6	152763259	152763259	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr6:152763259G>A	ENST00000367255.5	-	31	4560	c.3959C>T	c.(3958-3960)aCa>aTa	p.T1320I	SYNE1_ENST00000413186.2_Missense_Mutation_p.T1320I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T1386I|SYNE1_ENST00000367248.3_Missense_Mutation_p.T1310I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T1320I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T1327I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T1327I|SYNE1_ENST00000367253.4_Missense_Mutation_p.T1320I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1320					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCATCCAGTGTGCTCTCCAG	0.637										HNSCC(10;0.0054)																												dbGAP											0													73.0	70.0	71.0					6																	152763259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3959C>T	6.37:g.152763259G>A	ENSP00000356224:p.Thr1320Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T1320I	ENST00000367255.5	37	c.3959	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920628	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88509	0.57;0.57;0.48;0.57;0.64;-2.25;-2.39;-2.39	5.19	3.34	0.38264	.	0.100803	0.43579	D	0.000558	D	0.89856	0.6836	M	0.67953	2.075	0.80722	D	1	D;P;D;D;P;P	0.89917	0.999;0.899;0.99;1.0;0.899;0.878	D;B;D;D;B;P	0.72338	0.951;0.367;0.911;0.977;0.367;0.627	D	0.88122	0.2832	10	0.37606	T	0.19	.	10.6272	0.45514	0.0:0.2716:0.5876:0.1408	.	1303;1320;1310;1320;1320;1327	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	I	1320;1327;1320;1327;1386;1320;1310;1320	ENSP00000356224:T1320I;ENSP00000396024:T1327I;ENSP00000265368:T1320I;ENSP00000390975:T1327I;ENSP00000341887:T1386I;ENSP00000356222:T1320I;ENSP00000356217:T1310I;ENSP00000414510:T1320I	ENSP00000265368:T1320I	T	-	2	0	SYNE1	152804952	1.000000	0.71417	0.879000	0.34478	0.390000	0.30446	3.488000	0.53229	0.632000	0.30432	0.650000	0.86243	ACA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.637	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	40	0.00	0	G	NM_182961		152763259	152763259	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	0.814	A
TLR5	7100	genome.wustl.edu	37	1	223284687	223284688	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr1:223284687_223284688insA	ENST00000540964.1	-	4	2147_2148	c.1686_1687insT	c.(1684-1689)gctcctfs	p.P563fs	TLR5_ENST00000342210.6_Frame_Shift_Ins_p.P563fs			O60602	TLR5_HUMAN	toll-like receptor 5	563			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCAGGATTAGGAGCTAGGAGCT	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1687dupT	1.37:g.223284688_223284688dupA	ENSP00000440643:p.Pro563fs		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Frame_Shift_Ins	INS	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.P562fs	ENST00000540964.1	37	c.1687_1686	CCDS31033.1	1																																																																																			TLR5	-	NULL	ENSG00000187554		0.391	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		94	0.00	0	-	NM_003268		223284687	223284688	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	frame_shift_ins	43	46.25	37	INS	0.972:0.306	A
WDR72	256764	genome.wustl.edu	37	15	53907842	53907842	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr15:53907842A>T	ENST00000396328.1	-	15	2800	c.2561T>A	c.(2560-2562)aTa>aAa	p.I854K	WDR72_ENST00000360509.5_Missense_Mutation_p.I854K|WDR72_ENST00000559418.1_Missense_Mutation_p.I864K|WDR72_ENST00000557913.1_Missense_Mutation_p.I851K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	854										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATAGTCTTTTATCATTCCACT	0.353																																						dbGAP											0													54.0	57.0	56.0					15																	53907842		2193	4290	6483	-	-	-	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2561T>A	15.37:g.53907842A>T	ENSP00000379619:p.Ile854Lys		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I854K	ENST00000396328.1	37	c.2561	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	A	2.751	-0.259954	0.05791	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.33865	1.39;1.39	5.72	-1.38	0.09027	.	0.698547	0.13505	N	0.382936	T	0.10766	0.0263	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	10	0.28530	T	0.3	.	3.1161	0.06375	0.4729:0.0701:0.1054:0.3516	.	854	Q3MJ13	WDR72_HUMAN	K	854	ENSP00000379619:I854K;ENSP00000353699:I854K	ENSP00000353699:I854K	I	-	2	0	WDR72	51695134	0.003000	0.15002	0.018000	0.16275	0.191000	0.23601	0.106000	0.15354	-0.166000	0.10890	-0.339000	0.08088	ATA	WDR72	-	NULL	ENSG00000166415		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	106	0.00	0	A	NM_182758		53907842	53907842	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	0.017	T
ZFP91	80829	genome.wustl.edu	37	11	58381738	58381738	+	Missense_Mutation	SNP	T	T	A			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr11:58381738T>A	ENST00000316059.6	+	9	1195	c.1024T>A	c.(1024-1026)Tat>Aat	p.Y342N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.Y342N|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	342	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAAGAAGAAATATGTATGTCC	0.393																																						dbGAP											0													89.0	84.0	85.0					11																	58381738		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1024T>A	11.37:g.58381738T>A	ENSP00000339030:p.Tyr342Asn		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y342N	ENST00000316059.6	37	c.1024	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002194	0.93227	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.14766	2.48	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.39835	0.1093	M	0.83483	2.645	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.63793	0.918;0.829	T	0.35724	-0.9777	10	0.87932	D	0	-13.4683	15.436	0.75146	0.0:0.0:0.0:1.0	.	342;342	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	342	ENSP00000339030:Y342N	ENSP00000374569:Y342N	Y	+	1	0	ZFP91	58138314	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	7.698000	0.84413	2.285000	0.76669	0.477000	0.44152	TAT	ZFP91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186660		0.393	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	146	0.00	0	T	NM_053023		58381738	58381738	+1	no_errors	ENST00000316059	ensembl	human	known	69_37n	missense	82	35.43	45	SNP	1.000	A
ZNF544	27300	genome.wustl.edu	37	19	58773290	58773290	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr19:58773290G>C	ENST00000596652.1	+	6	1552	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	ZNF544_ENST00000600220.1_Missense_Mutation_p.E412Q|ZNF544_ENST00000415203.2_Missense_Mutation_p.E412Q|ZNF544_ENST00000269829.4_Missense_Mutation_p.E440Q|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.E412Q|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.E298Q|CTD-3138B18.4_ENST00000600029.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAGTGTATTGAATGCAGAAA	0.433																																						dbGAP											0													88.0	90.0	90.0					19																	58773290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1318G>C	19.37:g.58773290G>C	ENSP00000469635:p.Glu440Gln		A8K6J1|Q9UEX4	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.E440Q	ENST00000596652.1	37	c.1318	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	0.642	-0.813029	0.02798	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.39229	1.09;1.09	2.54	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.26809	0.023;0.036;0.16	B;B;B	0.30495	0.03;0.086;0.116	T	0.22730	-1.0208	9	0.44086	T	0.13	.	2.4023	0.04404	0.1313:0.1814:0.5039:0.1834	.	412;412;440	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	Q	440;412;104	ENSP00000269829:E440Q;ENSP00000394341:E412Q	ENSP00000269829:E440Q	E	+	1	0	ZNF544	63465102	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.569000	0.02142	-0.032000	0.13758	0.491000	0.48974	GAA	ZNF544	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198131		0.433	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	106	0.00	0	G	NM_014480		58773290	58773290	+1	no_errors	ENST00000269829	ensembl	human	known	69_37n	missense	125	24.24	40	SNP	0.000	C
ZNF740	283337	genome.wustl.edu	37	12	53581370	53581370	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SD-01A-11D-A10Y-09	TCGA-A1-A0SD-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1847727f-ea57-4e2e-84e5-a10e764c9096	44ee7757-ca5e-4616-a3fc-5e30c8b6088c	g.chr12:53581370T>C	ENST00000416904.3	+	7	1023	c.578T>C	c.(577-579)cTa>cCa	p.L193P		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						CAGTTTTCTCTATAGGCGCAA	0.567																																						dbGAP											0													54.0	56.0	55.0					12																	53581370		1874	4093	5967	-	-	-	SO:0001583	missense	0			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.578T>C	12.37:g.53581370T>C	ENSP00000409463:p.Leu193Pro		A8K9M9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L193P	ENST00000416904.3	37	c.578	CCDS44896.1	12	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225404	0.79576	.	.	ENSG00000139651	ENST00000416904	T	0.09630	2.96	5.74	5.74	0.90152	.	0.000000	0.48767	D	0.000163	T	0.06962	0.0177	N	0.19112	0.55	0.80722	D	1	P	0.44734	0.842	B	0.32342	0.144	T	0.18429	-1.0337	10	0.87932	D	0	.	13.8745	0.63645	0.0:0.0:0.0:1.0	.	193	Q8NDX6	ZN740_HUMAN	P	193	ENSP00000409463:L193P	ENSP00000409463:L193P	L	+	2	0	ZNF740	51867637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.717000	0.47227	2.326000	0.78906	0.533000	0.62120	CTA	ZNF740	-	NULL	ENSG00000139651		0.567	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF740	HGNC	protein_coding	OTTHUMT00000406890.2	80	0.00	0	T	NM_001004304		53581370	53581370	+1	no_errors	ENST00000416904	ensembl	human	known	69_37n	missense	119	26.54	43	SNP	1.000	C
