#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AFF1	4299	genome.wustl.edu	37	4	87968539	87968539	+	Silent	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr4:87968539C>T	ENST00000307808.6	+	3	1251	c.831C>T	c.(829-831)ccC>ccT	p.P277P	AFF1_ENST00000395146.4_Silent_p.P284P|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	277					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P284P(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCACCTCCCTCCCTCCCCT	0.547																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											110.0	122.0	118.0					4																	87968539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.831C>T	4.37:g.87968539C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Silent	SNP	pfam_TF_AF4/FMR2	p.P284	ENST00000307808.6	37	c.852	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.547	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	42	0.00	0	C	NM_005935		87968539	87968539	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	0.000	T
AFF1	4299	genome.wustl.edu	37	4	87968539	87968539	+	Silent	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr4:87968539C>T	ENST00000307808.6	+	3	1251	c.831C>T	c.(829-831)ccC>ccT	p.P277P	AFF1_ENST00000395146.4_Silent_p.P284P|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	277					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P284P(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCACCTCCCTCCCTCCCCT	0.547																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											110.0	122.0	118.0					4																	87968539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.831C>T	4.37:g.87968539C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Silent	SNP	pfam_TF_AF4/FMR2	p.P284	ENST00000307808.6	37	c.852	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.547	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	55	0.00	0	C	NM_005935		87968539	87968539	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	0.000	T
ALMS1P	200420	genome.wustl.edu	37	2	73912256	73912256	+	RNA	SNP	G	G	A	rs368610477		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr2:73912256G>A	ENST00000450720.1	+	0	1154					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												GCCTGGGAAGGTTTTCTAATC	0.507																																						dbGAP											0													16.0	17.0	16.0					2																	73912256		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73912256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.507	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	34	0.00	0	G	NR_003683		73912256	73912256	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	38	17.39	8	SNP	0.001	A
ARHGAP35	2909	genome.wustl.edu	37	19	47492898	47492898	+	Silent	SNP	G	G	A	rs548207270		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr19:47492898G>A	ENST00000404338.3	+	4	4002	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1334	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCTGGTCCCGTATAACATGC	0.542																																						dbGAP											0													155.0	154.0	154.0					19																	47492898		1985	4153	6138	-	-	-	SO:0001819	synonymous_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4002G>A	19.37:g.47492898G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Silent	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P1334	ENST00000404338.3	37	c.4002	CCDS46127.1	19																																																																																			ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000160007		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	33	0.00	0	G	NM_004491		47492898	47492898	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	silent	123	22.64	36	SNP	0.000	A
ARHGAP35	2909	genome.wustl.edu	37	19	47492898	47492898	+	Silent	SNP	G	G	A	rs548207270		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr19:47492898G>A	ENST00000404338.3	+	4	4002	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1334	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCTGGTCCCGTATAACATGC	0.542																																						dbGAP											0													155.0	154.0	154.0					19																	47492898		1985	4153	6138	-	-	-	SO:0001819	synonymous_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4002G>A	19.37:g.47492898G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Silent	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P1334	ENST00000404338.3	37	c.4002	CCDS46127.1	19																																																																																			ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000160007		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	200	0.00	0	G	NM_004491		47492898	47492898	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	silent	123	22.64	36	SNP	0.000	A
BCL9L	283149	genome.wustl.edu	37	11	118778200	118778200	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr11:118778200G>T	ENST00000334801.3	-	3	1488	c.524C>A	c.(523-525)gCc>gAc	p.A175D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	175					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACTGTGGGTGGCCCCAATGGG	0.617											OREG0021388	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													201.0	179.0	187.0					11																	118778200		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.524C>A	11.37:g.118778200G>T	ENSP00000335320:p.Ala175Asp	Somatic	1491	WXS	Illumina GAIIx	Phase_IV	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.A175D	ENST00000334801.3	37	c.524	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991062	0.93106	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64085	-0.08	5.67	5.67	0.87782	.	0.306621	0.23545	N	0.047028	T	0.58566	0.2131	N	0.19112	0.55	0.48975	D	0.999738	D;D	0.56746	0.977;0.961	P;P	0.56648	0.803;0.64	T	0.61347	-0.7081	10	0.62326	D	0.03	-17.6694	8.9289	0.35657	0.0808:0.1968:0.7224:0.0	.	170;175	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	175;138;175;175	ENSP00000335320:A175D	ENSP00000335320:A175D	A	-	2	0	BCL9L	118283410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.163000	0.58183	2.686000	0.91538	0.561000	0.74099	GCC	BCL9L	-	NULL	ENSG00000186174		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	13	0.00	0	G	NM_182557		118778200	118778200	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	missense	47	39.74	31	SNP	1.000	T
BCL9L	283149	genome.wustl.edu	37	11	118778200	118778200	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr11:118778200G>T	ENST00000334801.3	-	3	1488	c.524C>A	c.(523-525)gCc>gAc	p.A175D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	175					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACTGTGGGTGGCCCCAATGGG	0.617											OREG0021388	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													201.0	179.0	187.0					11																	118778200		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.524C>A	11.37:g.118778200G>T	ENSP00000335320:p.Ala175Asp	Somatic	1491	WXS	Illumina GAIIx	Phase_IV	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.A175D	ENST00000334801.3	37	c.524	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991062	0.93106	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.64085	-0.08	5.67	5.67	0.87782	.	0.306621	0.23545	N	0.047028	T	0.58566	0.2131	N	0.19112	0.55	0.48975	D	0.999738	D;D	0.56746	0.977;0.961	P;P	0.56648	0.803;0.64	T	0.61347	-0.7081	10	0.62326	D	0.03	-17.6694	8.9289	0.35657	0.0808:0.1968:0.7224:0.0	.	170;175	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	D	175;138;175;175	ENSP00000335320:A175D	ENSP00000335320:A175D	A	-	2	0	BCL9L	118283410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.163000	0.58183	2.686000	0.91538	0.561000	0.74099	GCC	BCL9L	-	NULL	ENSG00000186174		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	195	0.00	0	G	NM_182557		118778200	118778200	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	missense	47	39.74	31	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16665800	16665800	+	Silent	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr17:16665800C>T	ENST00000360524.8	+	14	3916	c.3840C>T	c.(3838-3840)taC>taT	p.Y1280Y	RP11-219A15.1_ENST00000448331.3_Silent_p.Y1280Y|CCDC144A_ENST00000443444.2_Silent_p.Y1280Y|CCDC144A_ENST00000456009.1_Silent_p.Y1046Y|CCDC144A_ENST00000399273.1_Silent_p.Y1280Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1280																	AGGAACTCTACCTAGAAGAAG	0.338																																						dbGAP											0													10.0	12.0	11.0					17																	16665800		1784	4033	5817	-	-	-	SO:0001819	synonymous_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3840C>T	17.37:g.16665800C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Silent	SNP	pfam_DUF3496	p.Y1280	ENST00000360524.8	37	c.3840	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	0.137	-1.106214	0.01828	.	.	ENSG00000170160	ENST00000328495	.	.	.	2.1	-2.81	0.05805	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.40742	D	0.982847	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	7.7235	0.28746	0.0:0.6105:0.0:0.3895	.	.	.	.	I	810	.	.	T	+	2	0	CCDC144A	16606525	0.030000	0.19436	0.103000	0.21229	0.354000	0.29330	0.002000	0.13061	-0.857000	0.04115	0.184000	0.17185	ACC	CCDC144A	-	pfam_DUF3496	ENSG00000170160		0.338	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	120	0.00	0	C			16665800	16665800	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.580	T
CCDC144A	9720	genome.wustl.edu	37	17	16665800	16665800	+	Silent	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr17:16665800C>T	ENST00000360524.8	+	14	3916	c.3840C>T	c.(3838-3840)taC>taT	p.Y1280Y	RP11-219A15.1_ENST00000448331.3_Silent_p.Y1280Y|CCDC144A_ENST00000443444.2_Silent_p.Y1280Y|CCDC144A_ENST00000456009.1_Silent_p.Y1046Y|CCDC144A_ENST00000399273.1_Silent_p.Y1280Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1280																	AGGAACTCTACCTAGAAGAAG	0.338																																						dbGAP											0													10.0	12.0	11.0					17																	16665800		1784	4033	5817	-	-	-	SO:0001819	synonymous_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3840C>T	17.37:g.16665800C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Silent	SNP	pfam_DUF3496	p.Y1280	ENST00000360524.8	37	c.3840	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	0.137	-1.106214	0.01828	.	.	ENSG00000170160	ENST00000328495	.	.	.	2.1	-2.81	0.05805	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.40742	D	0.982847	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	.	7.7235	0.28746	0.0:0.6105:0.0:0.3895	.	.	.	.	I	810	.	.	T	+	2	0	CCDC144A	16606525	0.030000	0.19436	0.103000	0.21229	0.354000	0.29330	0.002000	0.13061	-0.857000	0.04115	0.184000	0.17185	ACC	CCDC144A	-	pfam_DUF3496	ENSG00000170160		0.338	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	33	0.00	0	C			16665800	16665800	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.580	T
CSRNP1	64651	genome.wustl.edu	37	3	39184985	39184985	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr3:39184985T>C	ENST00000273153.5	-	5	1508	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	CSRNP1_ENST00000514182.1_Missense_Mutation_p.Y444C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	444					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						ACAGCCAGAATAGCTGTGGGT	0.572																																						dbGAP											0													63.0	62.0	62.0					3																	39184985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1331A>G	3.37:g.39184985T>C	ENSP00000273153:p.Tyr444Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YY5	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.Y444C	ENST00000273153.5	37	c.1331	CCDS2682.1	3	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272895	0.40194	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.43294	0.95;0.95	4.52	0.662	0.17880	.	0.274293	0.27366	N	0.019687	T	0.25382	0.0617	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.11397	-1.0589	10	0.38643	T	0.18	-3.0197	2.2941	0.04145	0.1248:0.1453:0.1296:0.6004	.	444	Q96S65	CSRN1_HUMAN	C	444;444;102	ENSP00000273153:Y444C;ENSP00000422532:Y444C	ENSP00000273153:Y444C	Y	-	2	0	CSRNP1	39159989	0.710000	0.27896	0.181000	0.23098	0.952000	0.60782	1.316000	0.33620	0.029000	0.15352	0.533000	0.62120	TAT	CSRNP1	-	NULL	ENSG00000144655		0.572	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1	117	0.00	0	T	NM_033027		39184985	39184985	-1	no_errors	ENST00000273153	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	0.019	C
DENND4B	9909	genome.wustl.edu	37	1	153916788	153916788	+	Silent	SNP	G	G	A	rs556463250		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr1:153916788G>A	ENST00000361217.4	-	2	481	c.63C>T	c.(61-63)aaC>aaT	p.N21N		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	21					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGTGCTCCGTTCCCTGCAA	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17914	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.63C>T	1.37:g.153916788G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.N21	ENST00000361217.4	37	c.63	CCDS44228.1	1																																																																																			DENND4B	-	pfscan_uDENN_dom	ENSG00000198837		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	42	0.00	0	G	XM_375806		153916788	153916788	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	silent	22	30.30	10	SNP	0.954	A
EIF2A	83939	genome.wustl.edu	37	3	150301029	150301029	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr3:150301029G>A	ENST00000460851.1	+	13	1778	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.G343R|EIF2A_ENST00000487799.1_Missense_Mutation_p.G532R|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.G496R|EIF2A_ENST00000273435.5_Missense_Mutation_p.G552R			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	557					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGCAACTGGAAAACAGCT	0.363																																						dbGAP											0													94.0	94.0	94.0					3																	150301029		1836	4087	5923	-	-	-	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1669G>A	3.37:g.150301029G>A	ENSP00000417229:p.Gly557Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pirsf_TIF2A	p.G557R	ENST00000460851.1	37	c.1669	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603111	0.87157	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.75260	-0.75;-0.8;-0.92;-0.84;-0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.92567	0.6063	10	0.87932	D	0	-14.8664	18.5898	0.91206	0.0:0.0:1.0:0.0	.	496;532;557	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	R	532;557;496;552;343	ENSP00000420537:G532R;ENSP00000417229:G557R;ENSP00000385292:G496R;ENSP00000273435:G552R;ENSP00000372513:G343R	ENSP00000273435:G552R	G	+	1	0	EIF2A	151783719	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	6.604000	0.74150	2.485000	0.83878	0.484000	0.47621	GGA	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.363	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	186	0.00	0	G	NM_032025		150301029	150301029	+1	no_errors	ENST00000460851	ensembl	human	known	69_37n	missense	138	16.87	28	SNP	0.996	A
EIF2A	83939	genome.wustl.edu	37	3	150301029	150301029	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr3:150301029G>A	ENST00000460851.1	+	13	1778	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.G343R|EIF2A_ENST00000487799.1_Missense_Mutation_p.G532R|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.G496R|EIF2A_ENST00000273435.5_Missense_Mutation_p.G552R			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	557					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGCAACTGGAAAACAGCT	0.363																																						dbGAP											0													94.0	94.0	94.0					3																	150301029		1836	4087	5923	-	-	-	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1669G>A	3.37:g.150301029G>A	ENSP00000417229:p.Gly557Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pirsf_TIF2A	p.G557R	ENST00000460851.1	37	c.1669	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603111	0.87157	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.75260	-0.75;-0.8;-0.92;-0.84;-0.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.92567	0.6063	10	0.87932	D	0	-14.8664	18.5898	0.91206	0.0:0.0:1.0:0.0	.	496;532;557	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	R	532;557;496;552;343	ENSP00000420537:G532R;ENSP00000417229:G557R;ENSP00000385292:G496R;ENSP00000273435:G552R;ENSP00000372513:G343R	ENSP00000273435:G552R	G	+	1	0	EIF2A	151783719	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	6.604000	0.74150	2.485000	0.83878	0.484000	0.47621	GGA	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.363	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	187	0.00	0	G	NM_032025		150301029	150301029	+1	no_errors	ENST00000460851	ensembl	human	known	69_37n	missense	138	16.87	28	SNP	0.996	A
FAM98B	283742	genome.wustl.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggtggtggag	0.443																																						dbGAP											0													19.0	18.0	18.0					15																	38776827		1515	3413	4928	-	-	-	SO:0001628	intergenic_variant	0				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776827T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUW5|Q8N935	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.V98E	ENST00000491535.1	37	c.293	CCDS42015.1	15																																																																																			FAM98B	-	NULL	ENSG00000171262		0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	HGNC	protein_coding	OTTHUMT00000252071.2	33	0.00	0	T	NM_173611		38776827	38776827	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559431	ensembl	human	putative	69_37n	missense	85	19.05	20	SNP	0.478	A
GGT3P	2679	genome.wustl.edu	37	22	18769677	18769677	+	RNA	SNP	C	C	T	rs201643425	byFrequency	TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr22:18769677C>T	ENST00000412448.1	-	0	1001							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGCTCGATGACGGTCCGCTTG	0.672																																						dbGAP											0																																										-	-	-			0					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769677C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-	ENSG00000197421		0.672	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	20	0.00	0	C	NR_003267		18769677	18769677	-1	no_errors	ENST00000412448	ensembl	human	known	69_37n	rna	100	19.20	24	SNP	0.000	T
GPR50	9248	genome.wustl.edu	37	X	150349052	150349052	+	Missense_Mutation	SNP	C	C	T	rs200075966		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chrX:150349052C>T	ENST00000218316.3	+	2	1066	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	333	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGGCCCGTACCCTGGC	0.567																																						dbGAP											0													95.0	98.0	97.0					X																	150349052		2096	4194	6290	-	-	-	SO:0001583	missense	0			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.997C>T	X.37:g.150349052C>T	ENSP00000218316:p.Arg333Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.R333C	ENST00000218316.3	37	c.997	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097157	0.20552	.	.	ENSG00000102195	ENST00000218316	T	0.61040	0.14	3.71	1.89	0.25635	.	0.721958	0.11601	N	0.547750	T	0.39091	0.1065	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31280	-0.9949	10	0.72032	D	0.01	-0.6061	5.695	0.17851	0.1923:0.6956:0.0:0.1121	.	333	Q13585	MTR1L_HUMAN	C	333	ENSP00000218316:R333C	ENSP00000218316:R333C	R	+	1	0	GPR50	150099710	0.169000	0.23002	0.002000	0.10522	0.004000	0.04260	0.819000	0.27308	0.228000	0.21019	-0.465000	0.05216	CGT	GPR50	-	prints_Mel_rcpt_1X	ENSG00000102195		0.567	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	27	0.00	0	C	NM_004224		150349052	150349052	+1	no_errors	ENST00000218316	ensembl	human	known	69_37n	missense	70	35.19	38	SNP	0.043	T
GPR50	9248	genome.wustl.edu	37	X	150349052	150349052	+	Missense_Mutation	SNP	C	C	T	rs200075966		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chrX:150349052C>T	ENST00000218316.3	+	2	1066	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	333	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGGCCCGTACCCTGGC	0.567																																						dbGAP											0													95.0	98.0	97.0					X																	150349052		2096	4194	6290	-	-	-	SO:0001583	missense	0			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.997C>T	X.37:g.150349052C>T	ENSP00000218316:p.Arg333Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.R333C	ENST00000218316.3	37	c.997	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097157	0.20552	.	.	ENSG00000102195	ENST00000218316	T	0.61040	0.14	3.71	1.89	0.25635	.	0.721958	0.11601	N	0.547750	T	0.39091	0.1065	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31280	-0.9949	10	0.72032	D	0.01	-0.6061	5.695	0.17851	0.1923:0.6956:0.0:0.1121	.	333	Q13585	MTR1L_HUMAN	C	333	ENSP00000218316:R333C	ENSP00000218316:R333C	R	+	1	0	GPR50	150099710	0.169000	0.23002	0.002000	0.10522	0.004000	0.04260	0.819000	0.27308	0.228000	0.21019	-0.465000	0.05216	CGT	GPR50	-	prints_Mel_rcpt_1X	ENSG00000102195		0.567	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	101	0.00	0	C	NM_004224		150349052	150349052	+1	no_errors	ENST00000218316	ensembl	human	known	69_37n	missense	70	35.19	38	SNP	0.043	T
GRIN2A	2903	genome.wustl.edu	37	16	9923469	9923469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr16:9923469C>T	ENST00000396573.2	-	10	2127	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.W449*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.W606*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	606					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCAAAGAAGCCATATAGCTT	0.453																																						dbGAP											0													67.0	63.0	64.0					16																	9923469		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1818G>A	16.37:g.9923469C>T	ENSP00000379818:p.Trp606*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Nonsense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W606*	ENST00000396573.2	37	c.1818	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	43	9.834809	0.99275	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	.	.	.	X	606;606;449;606;606	.	.	W	-	3	0	GRIN2A	9830970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	TGG	GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000183454		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	49	0.00	0	C			9923469	9923469	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	nonsense	70	29.29	29	SNP	1.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9923469	9923469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr16:9923469C>T	ENST00000396573.2	-	10	2127	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.W449*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.W606*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.W606*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	606					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCAAAGAAGCCATATAGCTT	0.453																																						dbGAP											0													67.0	63.0	64.0					16																	9923469		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1818G>A	16.37:g.9923469C>T	ENSP00000379818:p.Trp606*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Nonsense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W606*	ENST00000396573.2	37	c.1818	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	43	9.834809	0.99275	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	.	.	.	X	606;606;449;606;606	.	.	W	-	3	0	GRIN2A	9830970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	TGG	GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000183454		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	84	0.00	0	C			9923469	9923469	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	nonsense	70	29.29	29	SNP	1.000	T
LINGO1	84894	genome.wustl.edu	37	15	77907723	77907723	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr15:77907723C>T	ENST00000355300.6	-	2	700	c.526G>A	c.(526-528)Gac>Aac	p.D176N	LINGO1_ENST00000561030.1_Missense_Mutation_p.D170N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	176					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGTCATTGTCGCCAACCTCC	0.547																																						dbGAP											0													150.0	154.0	152.0					15																	77907723		2170	4268	6438	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.526G>A	15.37:g.77907723C>T	ENSP00000347451:p.Asp176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D176N	ENST00000355300.6	37	c.526	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528240	0.85706	.	.	ENSG00000169783	ENST00000355300	T	0.55930	0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.03281	-0.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65088	-0.6253	10	0.45353	T	0.12	.	19.2687	0.94000	0.0:1.0:0.0:0.0	.	176	Q96FE5	LIGO1_HUMAN	N	176	ENSP00000347451:D176N	ENSP00000347451:D176N	D	-	1	0	LINGO1	75694778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.561000	0.74099	GAC	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.547	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	19	0.00	0	C	NM_032808		77907723	77907723	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	1.000	T
LINGO1	84894	genome.wustl.edu	37	15	77907723	77907723	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr15:77907723C>T	ENST00000355300.6	-	2	700	c.526G>A	c.(526-528)Gac>Aac	p.D176N	LINGO1_ENST00000561030.1_Missense_Mutation_p.D170N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	176					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGTCATTGTCGCCAACCTCC	0.547																																						dbGAP											0													150.0	154.0	152.0					15																	77907723		2170	4268	6438	-	-	-	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.526G>A	15.37:g.77907723C>T	ENSP00000347451:p.Asp176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D176N	ENST00000355300.6	37	c.526	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528240	0.85706	.	.	ENSG00000169783	ENST00000355300	T	0.55930	0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	N	0.03281	-0.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65088	-0.6253	10	0.45353	T	0.12	.	19.2687	0.94000	0.0:1.0:0.0:0.0	.	176	Q96FE5	LIGO1_HUMAN	N	176	ENSP00000347451:D176N	ENSP00000347451:D176N	D	-	1	0	LINGO1	75694778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.561000	0.74099	GAC	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.547	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	97	0.00	0	C	NM_032808		77907723	77907723	-1	no_errors	ENST00000355300	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	1.000	T
MAGI2	9863	genome.wustl.edu	37	7	78636505	78636505	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr7:78636505C>T	ENST00000354212.4	-	2	572	c.319G>A	c.(319-321)Gac>Aac	p.D107N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D107N|MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.D107N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	107					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)	p.D107N(1)		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)				TGACGAAGGTCTTTATCAACA	0.383																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	104.0	109.0					7																	78636505		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.319G>A	7.37:g.78636505C>T	ENSP00000346151:p.Asp107Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	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.D107N	ENST00000354212.4	37	c.319	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.150039	0.94645	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.14022	2.62;2.63;2.54	5.29	5.29	0.74685	PDZ/DHR/GLGF (1);Guanylate kinase/L-type calcium channel (1);	.	.	.	.	T	0.42245	0.1194	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.41052	-0.9530	9	0.87932	D	0	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	107;107	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	N	107	ENSP00000405766:D107N;ENSP00000346151:D107N;ENSP00000428389:D107N	ENSP00000346151:D107N	D	-	1	0	MAGI2	78474441	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	GAC	MAGI2	-	superfamily_PDZ,smart_Guanylate_kin/L-typ_Ca_channel	ENSG00000187391		0.383	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	91	0.00	0	C	NM_012301		78636505	78636505	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	128	25.58	44	SNP	1.000	T
MAGI2	9863	genome.wustl.edu	37	7	78636505	78636505	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr7:78636505C>T	ENST00000354212.4	-	2	572	c.319G>A	c.(319-321)Gac>Aac	p.D107N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D107N|MAGI2-AS2_ENST00000411616.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.D107N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	107					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)	p.D107N(1)		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)				TGACGAAGGTCTTTATCAACA	0.383																																						dbGAP											1	Substitution - Missense(1)	lung(1)											119.0	104.0	109.0					7																	78636505		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.319G>A	7.37:g.78636505C>T	ENSP00000346151:p.Asp107Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	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.D107N	ENST00000354212.4	37	c.319	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.150039	0.94645	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.14022	2.62;2.63;2.54	5.29	5.29	0.74685	PDZ/DHR/GLGF (1);Guanylate kinase/L-type calcium channel (1);	.	.	.	.	T	0.42245	0.1194	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.41052	-0.9530	9	0.87932	D	0	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	107;107	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	N	107	ENSP00000405766:D107N;ENSP00000346151:D107N;ENSP00000428389:D107N	ENSP00000346151:D107N	D	-	1	0	MAGI2	78474441	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	GAC	MAGI2	-	superfamily_PDZ,smart_Guanylate_kin/L-typ_Ca_channel	ENSG00000187391		0.383	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	138	0.00	0	C	NM_012301		78636505	78636505	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	128	25.58	44	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118371701	118371701	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr11:118371701G>A	ENST00000389506.5	+	25	6149		c.e25-1		KMT2A_ENST00000354520.4_Splice_Site|KMT2A_ENST00000534358.1_Splice_Site			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGTTTACCCAGGTGTTCCAGG	0.473																																						dbGAP											0													74.0	68.0	70.0					11																	118371701		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6150-1G>A	11.37:g.118371701G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Splice_Site	SNP	-	e25-1	ENST00000389506.5	37	c.6150-1	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579526	0.86645	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3662	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL	117876911	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.869000	0.99810	2.571000	0.86741	0.491000	0.48974	.	MLL	-	-	ENSG00000118058		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	29	0.00	0	G	NM_005933	Intron	118371701	118371701	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	splice_site	31	39.22	20	SNP	1.000	A
KMT2A	4297	genome.wustl.edu	37	11	118371701	118371701	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr11:118371701G>A	ENST00000389506.5	+	25	6149		c.e25-1		KMT2A_ENST00000354520.4_Splice_Site|KMT2A_ENST00000534358.1_Splice_Site			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGTTTACCCAGGTGTTCCAGG	0.473																																						dbGAP											0													74.0	68.0	70.0					11																	118371701		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6150-1G>A	11.37:g.118371701G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Splice_Site	SNP	-	e25-1	ENST00000389506.5	37	c.6150-1	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579526	0.86645	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3662	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL	117876911	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	9.869000	0.99810	2.571000	0.86741	0.491000	0.48974	.	MLL	-	-	ENSG00000118058		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	100	0.00	0	G	NM_005933	Intron	118371701	118371701	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	splice_site	31	39.22	20	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151878893	151878894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr7:151878893_151878894insA	ENST00000262189.6	-	36	6269_6270	c.6051_6052insT	c.(6049-6054)tttcaafs	p.Q2018fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.Q2018fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2018	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTTGTCTTTGAAACACATCTG	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6052dupT	7.37:g.151878896_151878896dupA	ENSP00000262189:p.Gln2018fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2017fs	ENST00000262189.6	37	c.6052_6051	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.470	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	50	0.00	0	-			151878893	151878894	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	90	26.83	33	INS	1.000:0.997	A
KMT2C	58508	genome.wustl.edu	37	7	151878893	151878894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr7:151878893_151878894insA	ENST00000262189.6	-	36	6269_6270	c.6051_6052insT	c.(6049-6054)tttcaafs	p.Q2018fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.Q2018fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2018	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTTGTCTTTGAAACACATCTG	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6052dupT	7.37:g.151878896_151878896dupA	ENSP00000262189:p.Gln2018fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2017fs	ENST00000262189.6	37	c.6052_6051	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.470	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	91	0.00	0	-			151878893	151878894	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	90	26.83	33	INS	1.000:0.997	A
NFKB2	4791	genome.wustl.edu	37	10	104158032	104158032	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr10:104158032C>T	ENST00000369966.3	+	10	1080	c.830C>T	c.(829-831)tCt>tTt	p.S277F	NFKB2_ENST00000189444.6_Missense_Mutation_p.S277F|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.S277F	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	277	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GGGGACTTCTCTCCCACAGAT	0.562			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													116.0	117.0	117.0					10																	104158032		1877	4097	5974	-	-	-	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.830C>T	10.37:g.104158032C>T	ENSP00000358983:p.Ser277Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.S277F	ENST00000369966.3	37	c.830	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290247	0.80914	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.90955	-2.76;-2.76;-2.76	5.15	5.15	0.70609	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051898	0.85682	D	0.000000	D	0.95943	0.8679	M	0.87547	2.89	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.978;0.968;0.982	D	0.96597	0.9442	10	0.87932	D	0	.	18.6063	0.91266	0.0:1.0:0.0:0.0	.	277;277;277	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	F	277	ENSP00000410256:S277F;ENSP00000358983:S277F;ENSP00000189444:S277F	ENSP00000189444:S277F	S	+	2	0	NFKB2	104148022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.389000	0.79806	2.401000	0.81631	0.561000	0.74099	TCT	NFKB2	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor	ENSG00000077150		0.562	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	60	0.00	0	C			104158032	104158032	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	missense	186	25.60	64	SNP	1.000	T
NFKB2	4791	genome.wustl.edu	37	10	104158032	104158032	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr10:104158032C>T	ENST00000369966.3	+	10	1080	c.830C>T	c.(829-831)tCt>tTt	p.S277F	NFKB2_ENST00000189444.6_Missense_Mutation_p.S277F|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.S277F	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	277	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GGGGACTTCTCTCCCACAGAT	0.562			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													116.0	117.0	117.0					10																	104158032		1877	4097	5974	-	-	-	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.830C>T	10.37:g.104158032C>T	ENSP00000358983:p.Ser277Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.S277F	ENST00000369966.3	37	c.830	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290247	0.80914	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.90955	-2.76;-2.76;-2.76	5.15	5.15	0.70609	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051898	0.85682	D	0.000000	D	0.95943	0.8679	M	0.87547	2.89	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.978;0.968;0.982	D	0.96597	0.9442	10	0.87932	D	0	.	18.6063	0.91266	0.0:1.0:0.0:0.0	.	277;277;277	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	F	277	ENSP00000410256:S277F;ENSP00000358983:S277F;ENSP00000189444:S277F	ENSP00000189444:S277F	S	+	2	0	NFKB2	104148022	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.389000	0.79806	2.401000	0.81631	0.561000	0.74099	TCT	NFKB2	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor	ENSG00000077150		0.562	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	180	0.00	0	C			104158032	104158032	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	missense	186	25.60	64	SNP	1.000	T
OR10J5	127385	genome.wustl.edu	37	1	159505444	159505444	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr1:159505444C>T	ENST00000334857.2	-	1	398	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCATACCCCATTGCAGTAA	0.468																																						dbGAP											0													118.0	101.0	106.0					1																	159505444		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.354G>A	1.37:g.159505444C>T	ENSP00000334441:p.Met118Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH35|Q6IFH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M118I	ENST00000334857.2	37	c.354	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443506	0.43429	.	.	ENSG00000184155	ENST00000334857	T	0.01126	5.3	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03220	0.0094	H	0.96691	3.865	0.42790	D	0.99389	P	0.45078	0.85	P	0.44732	0.459	T	0.00785	-1.1567	9	0.87932	D	0	.	14.1832	0.65588	0.0:1.0:0.0:0.0	.	118	Q8NHC4	O10J5_HUMAN	I	118	ENSP00000334441:M118I	ENSP00000334441:M118I	M	-	3	0	OR10J5	157772068	1.000000	0.71417	0.771000	0.31576	0.010000	0.07245	7.359000	0.79477	2.264000	0.75181	0.467000	0.42956	ATG	OR10J5	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184155		0.468	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	51	0.00	0	C	NM_001004469		159505444	159505444	-1	no_errors	ENST00000334857	ensembl	human	known	69_37n	missense	104	28.28	41	SNP	1.000	T
OR10J5	127385	genome.wustl.edu	37	1	159505444	159505444	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr1:159505444C>T	ENST00000334857.2	-	1	398	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCATACCCCATTGCAGTAA	0.468																																						dbGAP											0													118.0	101.0	106.0					1																	159505444		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.354G>A	1.37:g.159505444C>T	ENSP00000334441:p.Met118Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH35|Q6IFH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M118I	ENST00000334857.2	37	c.354	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443506	0.43429	.	.	ENSG00000184155	ENST00000334857	T	0.01126	5.3	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03220	0.0094	H	0.96691	3.865	0.42790	D	0.99389	P	0.45078	0.85	P	0.44732	0.459	T	0.00785	-1.1567	9	0.87932	D	0	.	14.1832	0.65588	0.0:1.0:0.0:0.0	.	118	Q8NHC4	O10J5_HUMAN	I	118	ENSP00000334441:M118I	ENSP00000334441:M118I	M	-	3	0	OR10J5	157772068	1.000000	0.71417	0.771000	0.31576	0.010000	0.07245	7.359000	0.79477	2.264000	0.75181	0.467000	0.42956	ATG	OR10J5	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184155		0.468	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	197	0.00	0	C	NM_001004469		159505444	159505444	-1	no_errors	ENST00000334857	ensembl	human	known	69_37n	missense	104	28.28	41	SNP	1.000	T
OR2A7	401427	genome.wustl.edu	37	7	143956461	143956461	+	Silent	SNP	T	T	C	rs199974780	byFrequency	TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr7:143956461T>C	ENST00000493325.1	-	1	354	c.261A>G	c.(259-261)ccA>ccG	p.P87P	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGGGCTTGGCTGGATGCAGGA	0.572																																						dbGAP											0													5.0	6.0	5.0					7																	143956461		1342	3122	4464	-	-	-	SO:0001819	synonymous_variant	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.261A>G	7.37:g.143956461T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN57|Q6IFP4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.P87	ENST00000493325.1	37	c.261	CCDS55177.1	7																																																																																			OR2A7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000243896		0.572	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1	13	0.00	0	T			143956461	143956461	-1	no_errors	ENST00000493325	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	0.000	C
PCDHGC3	5098	genome.wustl.edu	37	5	140856115	140856115	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr5:140856115T>G	ENST00000308177.3	+	1	536	c.432T>G	c.(430-432)atT>atG	p.I144M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGGAGATTAGCGAGGCCG	0.552																																						dbGAP											0													63.0	66.0	65.0					5																	140856115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.432T>G	5.37:g.140856115T>G	ENSP00000312070:p.Ile144Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I144M	ENST00000308177.3	37	c.432	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554978	0.45487	.	.	ENSG00000240184	ENST00000308177	T	0.56444	0.46	5.27	4.11	0.48088	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69415	0.3108	M	0.86651	2.83	0.24716	N	0.993179	D;D	0.76494	0.999;0.999	D;D	0.74023	0.981;0.982	T	0.63924	-0.6527	9	0.59425	D	0.04	.	2.0794	0.03631	0.2602:0.1571:0.0:0.5827	.	144;144	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	144	ENSP00000312070:I144M	ENSP00000312070:I144M	I	+	3	3	PCDHGC3	140836299	0.950000	0.32346	1.000000	0.80357	0.996000	0.88848	0.253000	0.18296	2.198000	0.70561	0.533000	0.62120	ATT	PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000240184		0.552	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	25	0.00	0	T	NM_002588		140856115	140856115	+1	no_errors	ENST00000308177	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	1.000	G
PCDHGC3	5098	genome.wustl.edu	37	5	140856115	140856115	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr5:140856115T>G	ENST00000308177.3	+	1	536	c.432T>G	c.(430-432)atT>atG	p.I144M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGGAGATTAGCGAGGCCG	0.552																																						dbGAP											0													63.0	66.0	65.0					5																	140856115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.432T>G	5.37:g.140856115T>G	ENSP00000312070:p.Ile144Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I144M	ENST00000308177.3	37	c.432	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554978	0.45487	.	.	ENSG00000240184	ENST00000308177	T	0.56444	0.46	5.27	4.11	0.48088	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69415	0.3108	M	0.86651	2.83	0.24716	N	0.993179	D;D	0.76494	0.999;0.999	D;D	0.74023	0.981;0.982	T	0.63924	-0.6527	9	0.59425	D	0.04	.	2.0794	0.03631	0.2602:0.1571:0.0:0.5827	.	144;144	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	144	ENSP00000312070:I144M	ENSP00000312070:I144M	I	+	3	3	PCDHGC3	140836299	0.950000	0.32346	1.000000	0.80357	0.996000	0.88848	0.253000	0.18296	2.198000	0.70561	0.533000	0.62120	ATT	PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000240184		0.552	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	94	0.00	0	T	NM_002588		140856115	140856115	+1	no_errors	ENST00000308177	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	178	Substitution - Missense(178)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)											61.0	61.0	61.0					3																	178936092		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545A	ENST00000263967.3	37	c.1634	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	113	0.00	0	A			178936092	178936092	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	125	21.88	35	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	178	Substitution - Missense(178)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)											61.0	61.0	61.0					3																	178936092		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545A	ENST00000263967.3	37	c.1634	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	89	0.00	0	A			178936092	178936092	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	125	21.88	35	SNP	1.000	C
PLCB4	5332	genome.wustl.edu	37	20	9417740	9417740	+	Missense_Mutation	SNP	G	G	T	rs367967938		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr20:9417740G>T	ENST00000378493.1	+	26	2684	c.2669G>T	c.(2668-2670)aGc>aTc	p.S890I	PLCB4_ENST00000334005.3_Missense_Mutation_p.S890I|PLCB4_ENST00000414679.2_Missense_Mutation_p.S902I|PLCB4_ENST00000378501.2_Missense_Mutation_p.S890I|PLCB4_ENST00000378473.3_Missense_Mutation_p.S902I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.S890I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	890					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTCAGAGTAGCTCTGAGCTC	0.547																																						dbGAP											0													87.0	75.0	79.0					20																	9417740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2669G>T	20.37:g.9417740G>T	ENSP00000367754:p.Ser890Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S890I	ENST00000378493.1	37	c.2669	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882817	0.72410	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61510	2.12;2.12;0.1;0.1;2.12;1.93	6.07	6.07	0.98685	.	0.040721	0.85682	D	0.000000	T	0.70710	0.3255	L	0.40543	1.245	0.80722	D	1	B;P;D;B	0.61697	0.011;0.911;0.99;0.007	B;B;D;B	0.69142	0.008;0.341;0.962;0.009	T	0.70088	-0.4968	10	0.66056	D	0.02	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	902;737;890;890	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	890;902;890;890;890;738	ENSP00000334105:S890I;ENSP00000367734:S902I;ENSP00000278655:S890I;ENSP00000367754:S890I;ENSP00000367762:S890I;ENSP00000390616:S738I	ENSP00000278655:S890I	S	+	2	0	PLCB4	9365740	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.966000	0.93397	2.884000	0.98904	0.655000	0.94253	AGC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.547	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	37	0.00	0	G			9417740	9417740	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	83	14.29	14	SNP	1.000	T
PLCB4	5332	genome.wustl.edu	37	20	9417740	9417740	+	Missense_Mutation	SNP	G	G	T	rs367967938		TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr20:9417740G>T	ENST00000378493.1	+	26	2684	c.2669G>T	c.(2668-2670)aGc>aTc	p.S890I	PLCB4_ENST00000334005.3_Missense_Mutation_p.S890I|PLCB4_ENST00000414679.2_Missense_Mutation_p.S902I|PLCB4_ENST00000378501.2_Missense_Mutation_p.S890I|PLCB4_ENST00000378473.3_Missense_Mutation_p.S902I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.S890I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	890					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTCAGAGTAGCTCTGAGCTC	0.547																																						dbGAP											0													87.0	75.0	79.0					20																	9417740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2669G>T	20.37:g.9417740G>T	ENSP00000367754:p.Ser890Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S890I	ENST00000378493.1	37	c.2669	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882817	0.72410	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61510	2.12;2.12;0.1;0.1;2.12;1.93	6.07	6.07	0.98685	.	0.040721	0.85682	D	0.000000	T	0.70710	0.3255	L	0.40543	1.245	0.80722	D	1	B;P;D;B	0.61697	0.011;0.911;0.99;0.007	B;B;D;B	0.69142	0.008;0.341;0.962;0.009	T	0.70088	-0.4968	10	0.66056	D	0.02	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	902;737;890;890	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	890;902;890;890;890;738	ENSP00000334105:S890I;ENSP00000367734:S902I;ENSP00000278655:S890I;ENSP00000367754:S890I;ENSP00000367762:S890I;ENSP00000390616:S738I	ENSP00000278655:S890I	S	+	2	0	PLCB4	9365740	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.966000	0.93397	2.884000	0.98904	0.655000	0.94253	AGC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.547	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	138	0.00	0	G			9417740	9417740	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	83	14.29	14	SNP	1.000	T
PLXNB3	5365	genome.wustl.edu	37	X	153041490	153041490	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chrX:153041490C>T	ENST00000361971.5	+	27	4664	c.4550C>T	c.(4549-4551)aCg>aTg	p.T1517M	PLXNB3_ENST00000538966.1_Missense_Mutation_p.T1540M|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.T1170M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1517					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTGACGCTGATGGTG	0.692																																						dbGAP											0													26.0	23.0	24.0					X																	153041490		2182	4283	6465	-	-	-	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4550C>T	X.37:g.153041490C>T	ENSP00000355378:p.Thr1517Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,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.T1540M	ENST00000361971.5	37	c.4619	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	c	16.48	3.135815	0.56828	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.12774	2.65;2.65;2.65	4.63	4.63	0.57726	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.407063	0.18111	N	0.151357	T	0.44052	0.1275	M	0.86651	2.83	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.51419	-0.8708	10	0.66056	D	0.02	.	15.6969	0.77506	0.0:1.0:0.0:0.0	.	1170;1540;1517	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	M	1540;1517;1170	ENSP00000442736:T1540M;ENSP00000355378:T1517M;ENSP00000445569:T1170M	ENSP00000355378:T1517M	T	+	2	0	PLXNB3	152694684	0.964000	0.33143	0.787000	0.31911	0.102000	0.19082	2.256000	0.43231	2.036000	0.60181	0.525000	0.51046	ACG	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000198753		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	77	0.00	0	C			153041490	153041490	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	T
PXK	54899	genome.wustl.edu	37	3	58398643	58398643	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr3:58398643G>A	ENST00000356151.2	+	17	1590	c.1481G>A	c.(1480-1482)aGc>aAc	p.S494N	PXK_ENST00000479241.1_Missense_Mutation_p.S476N|PXK_ENST00000536660.1_Missense_Mutation_p.S357N|PXK_ENST00000484288.1_Missense_Mutation_p.S494N|PXK_ENST00000383715.4_Missense_Mutation_p.S477N|PXK_ENST00000463280.1_Missense_Mutation_p.S461N|PXK_ENST00000383716.3_Missense_Mutation_p.S461N|PXK_ENST00000302779.5_Missense_Mutation_p.S477N	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCTGGGGCCAGCTCACCTCTC	0.542																																						dbGAP											0													164.0	151.0	155.0					3																	58398643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1481G>A	3.37:g.58398643G>A	ENSP00000348472:p.Ser494Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.S494N	ENST00000356151.2	37	c.1481	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.872223|3.872223	0.72180|0.72180	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000495557|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000493474	.|T;T;T;T;T;T;T;T;T	.|0.60548	.|1.75;1.75;1.75;1.4;1.38;1.39;1.29;2.12;0.18	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.078373	.|0.85682	.|D	.|0.000000	T|T	0.73697|0.73697	0.3620|0.3620	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.63880	.|0.981;0.989;0.993;0.981;0.989;0.989	.|D;D;D;D;D;D	.|0.72982	.|0.954;0.979;0.968;0.954;0.979;0.979	T|T	0.69487|0.69487	-0.5132|-0.5132	5|10	.|0.34782	.|T	.|0.22	-5.7788|-5.7788	18.3394|18.3394	0.90300|0.90300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|461;461;461;494;477;494	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	T|N	65|494;477;461;461;477;494;476;357;29	.|ENSP00000348472:S494N;ENSP00000305045:S477N;ENSP00000373222:S461N;ENSP00000417903:S461N;ENSP00000373221:S477N;ENSP00000417915:S494N;ENSP00000419049:S476N;ENSP00000438356:S357N;ENSP00000418836:S29N	.|ENSP00000305045:S477N	A|S	+|+	1|2	0|0	PXK|PXK	58373683|58373683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.303000|7.303000	0.78871|0.78871	2.769000|2.769000	0.95229|0.95229	0.650000|0.650000	0.86243|0.86243	GCT|AGC	PXK	-	NULL	ENSG00000168297		0.542	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	52	0.00	0	G	NM_017771		58398643	58398643	+1	no_errors	ENST00000356151	ensembl	human	known	69_37n	missense	127	30.60	56	SNP	1.000	A
PXK	54899	genome.wustl.edu	37	3	58398643	58398643	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr3:58398643G>A	ENST00000356151.2	+	17	1590	c.1481G>A	c.(1480-1482)aGc>aAc	p.S494N	PXK_ENST00000479241.1_Missense_Mutation_p.S476N|PXK_ENST00000536660.1_Missense_Mutation_p.S357N|PXK_ENST00000484288.1_Missense_Mutation_p.S494N|PXK_ENST00000383715.4_Missense_Mutation_p.S477N|PXK_ENST00000463280.1_Missense_Mutation_p.S461N|PXK_ENST00000383716.3_Missense_Mutation_p.S461N|PXK_ENST00000302779.5_Missense_Mutation_p.S477N	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCTGGGGCCAGCTCACCTCTC	0.542																																						dbGAP											0													164.0	151.0	155.0					3																	58398643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1481G>A	3.37:g.58398643G>A	ENSP00000348472:p.Ser494Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.S494N	ENST00000356151.2	37	c.1481	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.872223|3.872223	0.72180|0.72180	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000495557|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000493474	.|T;T;T;T;T;T;T;T;T	.|0.60548	.|1.75;1.75;1.75;1.4;1.38;1.39;1.29;2.12;0.18	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.078373	.|0.85682	.|D	.|0.000000	T|T	0.73697|0.73697	0.3620|0.3620	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.63880	.|0.981;0.989;0.993;0.981;0.989;0.989	.|D;D;D;D;D;D	.|0.72982	.|0.954;0.979;0.968;0.954;0.979;0.979	T|T	0.69487|0.69487	-0.5132|-0.5132	5|10	.|0.34782	.|T	.|0.22	-5.7788|-5.7788	18.3394|18.3394	0.90300|0.90300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|461;461;461;494;477;494	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	T|N	65|494;477;461;461;477;494;476;357;29	.|ENSP00000348472:S494N;ENSP00000305045:S477N;ENSP00000373222:S461N;ENSP00000417903:S461N;ENSP00000373221:S477N;ENSP00000417915:S494N;ENSP00000419049:S476N;ENSP00000438356:S357N;ENSP00000418836:S29N	.|ENSP00000305045:S477N	A|S	+|+	1|2	0|0	PXK|PXK	58373683|58373683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.303000|7.303000	0.78871|0.78871	2.769000|2.769000	0.95229|0.95229	0.650000|0.650000	0.86243|0.86243	GCT|AGC	PXK	-	NULL	ENSG00000168297		0.542	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	230	0.00	0	G	NM_017771		58398643	58398643	+1	no_errors	ENST00000356151	ensembl	human	known	69_37n	missense	127	30.60	56	SNP	1.000	A
THSD7B	80731	genome.wustl.edu	37	2	138425422	138425422	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr2:138425422A>G	ENST00000409968.1	+	27	4908	c.4730A>G	c.(4729-4731)tAc>tGc	p.Y1577C	THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1580C|THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1549C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1579						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTACTTCCTACCTTGTTTGG	0.318																																						dbGAP											0													105.0	96.0	99.0					2																	138425422		1839	4085	5924	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4730A>G	2.37:g.138425422A>G	ENSP00000387145:p.Tyr1577Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Y1580C	ENST00000409968.1	37	c.4739		2	.	.	.	.	.	.	.	.	.	.	.	17.15	3.315447	0.60524	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.33654	1.91;1.78;1.4	5.38	5.38	0.77491	.	0.054098	0.85682	D	0.000000	T	0.53334	0.1790	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.56751	-0.7927	10	0.87932	D	0	.	10.7958	0.46459	0.8593:0.0:0.0:0.1407	.	1549	C9JKN6	.	C	1577;1580;1549	ENSP00000387145:Y1577C;ENSP00000272643:Y1580C;ENSP00000413841:Y1549C	ENSP00000272643:Y1580C	Y	+	2	0	THSD7B	138141892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	2.184000	0.69523	0.529000	0.55759	TAC	THSD7B	-	NULL	ENSG00000144229		0.318	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	392	0.00	0	A	XM_046570.9		138425422	138425422	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	244	17.29	51	SNP	1.000	G
THSD7B	80731	genome.wustl.edu	37	2	138425422	138425422	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr2:138425422A>G	ENST00000409968.1	+	27	4908	c.4730A>G	c.(4729-4731)tAc>tGc	p.Y1577C	THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1580C|THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1549C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1579						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTACTTCCTACCTTGTTTGG	0.318																																						dbGAP											0													105.0	96.0	99.0					2																	138425422		1839	4085	5924	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4730A>G	2.37:g.138425422A>G	ENSP00000387145:p.Tyr1577Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Y1580C	ENST00000409968.1	37	c.4739		2	.	.	.	.	.	.	.	.	.	.	.	17.15	3.315447	0.60524	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.33654	1.91;1.78;1.4	5.38	5.38	0.77491	.	0.054098	0.85682	D	0.000000	T	0.53334	0.1790	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.56751	-0.7927	10	0.87932	D	0	.	10.7958	0.46459	0.8593:0.0:0.0:0.1407	.	1549	C9JKN6	.	C	1577;1580;1549	ENSP00000387145:Y1577C;ENSP00000272643:Y1580C;ENSP00000413841:Y1549C	ENSP00000272643:Y1580C	Y	+	2	0	THSD7B	138141892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	2.184000	0.69523	0.529000	0.55759	TAC	THSD7B	-	NULL	ENSG00000144229		0.318	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	216	0.00	0	A	XM_046570.9		138425422	138425422	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	244	17.29	51	SNP	1.000	G
TSC22D1	8848	genome.wustl.edu	37	13	45148301	45148301	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr13:45148301G>T	ENST00000458659.2	-	1	2400	c.1910C>A	c.(1909-1911)tCt>tAt	p.S637Y	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	637	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CATCTGTGTAGAAACCATTGG	0.507																																						dbGAP											0													117.0	114.0	115.0					13																	45148301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1910C>A	13.37:g.45148301G>T	ENSP00000397435:p.Ser637Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S637Y	ENST00000458659.2	37	c.1910	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150239	0.21371	.	.	ENSG00000102804	ENST00000458659	T	0.33438	1.41	4.68	3.82	0.43975	.	0.634408	0.14802	N	0.297600	T	0.25044	0.0608	N	0.19112	0.55	0.80722	D	1	P	0.39576	0.679	B	0.41723	0.365	T	0.05084	-1.0907	10	0.45353	T	0.12	.	13.944	0.64073	0.0:0.1532:0.8468:0.0	.	637	Q15714	T22D1_HUMAN	Y	637	ENSP00000397435:S637Y	ENSP00000397435:S637Y	S	-	2	0	TSC22D1	44046301	0.999000	0.42202	0.017000	0.16124	0.757000	0.42996	4.619000	0.61218	1.172000	0.42781	0.491000	0.48974	TCT	TSC22D1	-	NULL	ENSG00000102804		0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	21	0.00	0	G	NM_006022		45148301	45148301	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	0.509	T
TSC22D1	8848	genome.wustl.edu	37	13	45148301	45148301	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr13:45148301G>T	ENST00000458659.2	-	1	2400	c.1910C>A	c.(1909-1911)tCt>tAt	p.S637Y	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	637	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CATCTGTGTAGAAACCATTGG	0.507																																						dbGAP											0													117.0	114.0	115.0					13																	45148301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1910C>A	13.37:g.45148301G>T	ENSP00000397435:p.Ser637Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S637Y	ENST00000458659.2	37	c.1910	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150239	0.21371	.	.	ENSG00000102804	ENST00000458659	T	0.33438	1.41	4.68	3.82	0.43975	.	0.634408	0.14802	N	0.297600	T	0.25044	0.0608	N	0.19112	0.55	0.80722	D	1	P	0.39576	0.679	B	0.41723	0.365	T	0.05084	-1.0907	10	0.45353	T	0.12	.	13.944	0.64073	0.0:0.1532:0.8468:0.0	.	637	Q15714	T22D1_HUMAN	Y	637	ENSP00000397435:S637Y	ENSP00000397435:S637Y	S	-	2	0	TSC22D1	44046301	0.999000	0.42202	0.017000	0.16124	0.757000	0.42996	4.619000	0.61218	1.172000	0.42781	0.491000	0.48974	TCT	TSC22D1	-	NULL	ENSG00000102804		0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	129	0.00	0	G	NM_006022		45148301	45148301	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	0.509	T
TUBD1	51174	genome.wustl.edu	37	17	57958454	57958454	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr17:57958454G>A	ENST00000592426.1	-	3	338	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.P113L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.P113L|TUBD1_ENST00000340993.6_Missense_Mutation_p.P113L|TUBD1_ENST00000394239.3_Missense_Mutation_p.P113L|TUBD1_ENST00000539018.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	113					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P113R(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTCATGCCTGGGTCCATGAAC	0.378																																						dbGAP											1	Substitution - Missense(1)	NS(1)											87.0	81.0	83.0					17																	57958454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.338C>T	17.37:g.57958454G>A	ENSP00000468518:p.Pro113Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.P113L	ENST00000592426.1	37	c.338	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862051	0.91433	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.67569	2.06	0.80722	D	1	P;D;P;P	0.89917	0.885;1.0;0.485;0.541	P;D;B;P	0.91635	0.665;0.999;0.333;0.463	T	0.81803	-0.0765	10	0.72032	D	0.01	-12.8351	20.6721	0.99693	0.0:0.0:1.0:0.0	.	113;113;113;113	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	L	113	ENSP00000320797:P113L;ENSP00000342399:P113L;ENSP00000377785:P113L;ENSP00000365262:P113L	ENSP00000320797:P113L	P	-	2	0	TUBD1	55313236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.145000	0.94634	2.894000	0.99253	0.591000	0.81541	CCC	TUBD1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin	ENSG00000108423		0.378	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	68	0.00	0	G	NM_016261		57958454	57958454	-1	no_errors	ENST00000325752	ensembl	human	known	69_37n	missense	122	21.29	33	SNP	1.000	A
TUBD1	51174	genome.wustl.edu	37	17	57958454	57958454	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr17:57958454G>A	ENST00000592426.1	-	3	338	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.P113L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.P113L|TUBD1_ENST00000340993.6_Missense_Mutation_p.P113L|TUBD1_ENST00000394239.3_Missense_Mutation_p.P113L|TUBD1_ENST00000539018.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	113					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P113R(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTCATGCCTGGGTCCATGAAC	0.378																																						dbGAP											1	Substitution - Missense(1)	NS(1)											87.0	81.0	83.0					17																	57958454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.338C>T	17.37:g.57958454G>A	ENSP00000468518:p.Pro113Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.P113L	ENST00000592426.1	37	c.338	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862051	0.91433	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.67569	2.06	0.80722	D	1	P;D;P;P	0.89917	0.885;1.0;0.485;0.541	P;D;B;P	0.91635	0.665;0.999;0.333;0.463	T	0.81803	-0.0765	10	0.72032	D	0.01	-12.8351	20.6721	0.99693	0.0:0.0:1.0:0.0	.	113;113;113;113	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	L	113	ENSP00000320797:P113L;ENSP00000342399:P113L;ENSP00000377785:P113L;ENSP00000365262:P113L	ENSP00000320797:P113L	P	-	2	0	TUBD1	55313236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.145000	0.94634	2.894000	0.99253	0.591000	0.81541	CCC	TUBD1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin	ENSG00000108423		0.378	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	79	0.00	0	G	NM_016261		57958454	57958454	-1	no_errors	ENST00000325752	ensembl	human	known	69_37n	missense	122	21.29	33	SNP	1.000	A
WIZ	58525	genome.wustl.edu	37	19	15559037	15559037	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr19:15559037C>T	ENST00000389282.4	-	2	295	c.82G>A	c.(82-84)Gag>Aag	p.E28K	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.E28K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	28					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						TCGATGTTCTCCCTTGGCGCC	0.642																																						dbGAP											0													48.0	54.0	52.0					19																	15559037		1964	4129	6093	-	-	-	SO:0001583	missense	0			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.82G>A	19.37:g.15559037C>T	ENSP00000373933:p.Glu28Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E28K	ENST00000389282.4	37	c.82		19	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615993	0.28801	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.04603	3.59	3.67	2.53	0.30540	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.23889	N	0.996557	B	0.16396	0.017	B	0.15052	0.012	T	0.38499	-0.9658	8	0.27785	T	0.31	-4.7762	7.7466	0.28873	0.2497:0.7503:0.0:0.0	.	28	O95785-2	.	K	28	ENSP00000373933:E28K	ENSP00000263381:E28K	E	-	1	0	WIZ	15420037	0.578000	0.26717	0.814000	0.32528	0.183000	0.23260	1.216000	0.32443	2.043000	0.60533	0.561000	0.74099	GAG	WIZ	-	NULL	ENSG00000011451		0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		8	0.00	0	C	NM_021241		15559037	15559037	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.354	T
WIZ	58525	genome.wustl.edu	37	19	15559037	15559037	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr19:15559037C>T	ENST00000389282.4	-	2	295	c.82G>A	c.(82-84)Gag>Aag	p.E28K	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.E28K			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	28					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						TCGATGTTCTCCCTTGGCGCC	0.642																																						dbGAP											0													48.0	54.0	52.0					19																	15559037		1964	4129	6093	-	-	-	SO:0001583	missense	0			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.82G>A	19.37:g.15559037C>T	ENSP00000373933:p.Glu28Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E28K	ENST00000389282.4	37	c.82		19	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615993	0.28801	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.04603	3.59	3.67	2.53	0.30540	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.23889	N	0.996557	B	0.16396	0.017	B	0.15052	0.012	T	0.38499	-0.9658	8	0.27785	T	0.31	-4.7762	7.7466	0.28873	0.2497:0.7503:0.0:0.0	.	28	O95785-2	.	K	28	ENSP00000373933:E28K	ENSP00000263381:E28K	E	-	1	0	WIZ	15420037	0.578000	0.26717	0.814000	0.32528	0.183000	0.23260	1.216000	0.32443	2.043000	0.60533	0.561000	0.74099	GAG	WIZ	-	NULL	ENSG00000011451		0.642	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		66	0.00	0	C	NM_021241		15559037	15559037	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.354	T
YJEFN3	374887	genome.wustl.edu	37	19	19645891	19645891	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr19:19645891G>A	ENST00000514277.4	+	4	405	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.V122M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.V122M|YJEFN3_ENST00000436027.5_Missense_Mutation_p.V73M	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	123	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GGTGCTGGTCGTGTGTGGCCC	0.637																																						dbGAP											0													86.0	105.0	99.0					19																	19645891		2121	4225	6346	-	-	-	SO:0001583	missense	0				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.367G>A	19.37:g.19645891G>A	ENSP00000426964:p.Val123Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XGK9|Q4G1C0	Missense_Mutation	SNP	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	p.V123M	ENST00000514277.4	37	c.367	CCDS42530.1	19	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608443	0.66558	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.45276	0.9;0.9;0.9	4.53	4.53	0.55603	YjeF-related protein, N-terminal (5);	0.132780	0.51477	D	0.000089	T	0.63367	0.2505	M	0.84219	2.685	0.41435	D	0.987884	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.935;0.979	T	0.68262	-0.5455	10	0.87932	D	0	-3.8201	8.9373	0.35708	0.1042:0.0:0.8958:0.0	.	122;73;123	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	M	122;123;73;123;73;122	ENSP00000398520:V73M;ENSP00000426964:V123M;ENSP00000452549:V122M	ENSP00000389732:V122M	V	+	1	0	YJEFN3;CTC-260F20.3	19506891	0.998000	0.40836	0.863000	0.33907	0.561000	0.35649	3.040000	0.49799	2.263000	0.75096	0.650000	0.86243	GTG	YJEFN3	-	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	ENSG00000250067		0.637	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000368157.5	23	0.00	0	G	NM_198537		19645891	19645891	+1	no_errors	ENST00000514277	ensembl	human	known	69_37n	missense	58	30.12	25	SNP	0.962	A
YJEFN3	374887	genome.wustl.edu	37	19	19645891	19645891	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr19:19645891G>A	ENST00000514277.4	+	4	405	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.V122M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.V122M|YJEFN3_ENST00000436027.5_Missense_Mutation_p.V73M	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	123	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GGTGCTGGTCGTGTGTGGCCC	0.637																																						dbGAP											0													86.0	105.0	99.0					19																	19645891		2121	4225	6346	-	-	-	SO:0001583	missense	0				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.367G>A	19.37:g.19645891G>A	ENSP00000426964:p.Val123Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XGK9|Q4G1C0	Missense_Mutation	SNP	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	p.V123M	ENST00000514277.4	37	c.367	CCDS42530.1	19	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608443	0.66558	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.45276	0.9;0.9;0.9	4.53	4.53	0.55603	YjeF-related protein, N-terminal (5);	0.132780	0.51477	D	0.000089	T	0.63367	0.2505	M	0.84219	2.685	0.41435	D	0.987884	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.935;0.979	T	0.68262	-0.5455	10	0.87932	D	0	-3.8201	8.9373	0.35708	0.1042:0.0:0.8958:0.0	.	122;73;123	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	M	122;123;73;123;73;122	ENSP00000398520:V73M;ENSP00000426964:V123M;ENSP00000452549:V122M	ENSP00000389732:V122M	V	+	1	0	YJEFN3;CTC-260F20.3	19506891	0.998000	0.40836	0.863000	0.33907	0.561000	0.35649	3.040000	0.49799	2.263000	0.75096	0.650000	0.86243	GTG	YJEFN3	-	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	ENSG00000250067		0.637	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000368157.5	105	0.00	0	G	NM_198537		19645891	19645891	+1	no_errors	ENST00000514277	ensembl	human	known	69_37n	missense	58	30.12	25	SNP	0.962	A
ZCCHC14	23174	genome.wustl.edu	37	16	87446722	87446722	+	Silent	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr16:87446722G>A	ENST00000268616.4	-	11	1489	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	424	Poly-Ser.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCATGGGGCTGGAGGAGGAGC	0.657																																						dbGAP											0													48.0	46.0	47.0					16																	87446722		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1272C>T	16.37:g.87446722G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUN1|O60324|Q3MJD8|Q9UFP0	Nonsense_Mutation	SNP	pfam_Znf_CCHC,pfam_SAM_type1,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q308*	ENST00000268616.4	37	c.922	CCDS10961.1	16																																																																																			ZCCHC14	-	NULL	ENSG00000140948		0.657	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	11	0.00	0	G	NM_015144		87446722	87446722	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561928	ensembl	human	known	69_37n	nonsense	31	42.59	23	SNP	0.964	A
ZCCHC14	23174	genome.wustl.edu	37	16	87446722	87446722	+	Silent	SNP	G	G	A			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr16:87446722G>A	ENST00000268616.4	-	11	1489	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	424	Poly-Ser.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCATGGGGCTGGAGGAGGAGC	0.657																																						dbGAP											0													48.0	46.0	47.0					16																	87446722		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1272C>T	16.37:g.87446722G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUN1|O60324|Q3MJD8|Q9UFP0	Nonsense_Mutation	SNP	pfam_Znf_CCHC,pfam_SAM_type1,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q308*	ENST00000268616.4	37	c.922	CCDS10961.1	16																																																																																			ZCCHC14	-	NULL	ENSG00000140948		0.657	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	87	0.00	0	G	NM_015144		87446722	87446722	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561928	ensembl	human	known	69_37n	nonsense	31	42.59	23	SNP	0.964	A
ZNF812	729648	genome.wustl.edu	37	19	9801784	9801784	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	4128dbf9-bf2a-4ff9-9b71-195541e453ac	g.chr19:9801784A>G	ENST00000457674.2	-	5	913	c.395T>C	c.(394-396)aTt>aCt	p.I132T	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	132	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						TTCCTGTCCAATAGAGGCTTC	0.408																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.395T>C	19.37:g.9801784A>G	ENSP00000395629:p.Ile132Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		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.I132T	ENST00000457674.2	37	c.395	CCDS54215.1	19	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.208525	0.00024	.	.	ENSG00000224689	ENST00000457674	T	0.29655	1.56	1.42	-2.83	0.05769	Krueppel-associated box (1);	.	.	.	.	T	0.06234	0.0161	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07693	-1.0759	9	0.02654	T	1	.	1.1936	0.01870	0.2593:0.2863:0.3101:0.1443	.	132	P0C7V5	ZN812_HUMAN	T	132	ENSP00000395629:I132T	ENSP00000395629:I132T	I	-	2	0	ZNF812	9662784	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.585000	0.05794	-3.262000	0.00201	-1.273000	0.01405	ATT	ZNF812	-	pfscan_Krueppel-associated_box	ENSG00000224689		0.408	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	180	0.00	0	A			9801784	9801784	-1	no_errors	ENST00000457674	ensembl	human	known	69_37n	missense	128	24.71	42	SNP	0.001	G
ZNF812	729648	genome.wustl.edu	37	19	9801784	9801784	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DE-01A-11D-A10Y-09	TCGA-BH-A0DE-11A-23D-A10Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bddc0994-a57b-4fd0-9b62-bf7f9f4ba403	ef386867-86e0-4f34-9dd4-1e008bf0d26b	g.chr19:9801784A>G	ENST00000457674.2	-	5	913	c.395T>C	c.(394-396)aTt>aCt	p.I132T	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	132	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						TTCCTGTCCAATAGAGGCTTC	0.408																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.395T>C	19.37:g.9801784A>G	ENSP00000395629:p.Ile132Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		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.I132T	ENST00000457674.2	37	c.395	CCDS54215.1	19	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.208525	0.00024	.	.	ENSG00000224689	ENST00000457674	T	0.29655	1.56	1.42	-2.83	0.05769	Krueppel-associated box (1);	.	.	.	.	T	0.06234	0.0161	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07693	-1.0759	9	0.02654	T	1	.	1.1936	0.01870	0.2593:0.2863:0.3101:0.1443	.	132	P0C7V5	ZN812_HUMAN	T	132	ENSP00000395629:I132T	ENSP00000395629:I132T	I	-	2	0	ZNF812	9662784	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.585000	0.05794	-3.262000	0.00201	-1.273000	0.01405	ATT	ZNF812	-	pfscan_Krueppel-associated_box	ENSG00000224689		0.408	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF812	HGNC	protein_coding	OTTHUMT00000396726.1	210	0.00	0	A			9801784	9801784	-1	no_errors	ENST00000457674	ensembl	human	known	69_37n	missense	128	24.71	42	SNP	0.001	G
