#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
ABHD6	57406	genome.wustl.edu	37	3	58253048	58253048	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr3:58253048G>C	ENST00000478253.1	+	4	753	c.252G>C	c.(250-252)aaG>aaC	p.K84N	ABHD6_ENST00000295962.4_Missense_Mutation_p.K84N			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	84					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTGCCCACAAGGATATGTGGC	0.498																																						dbGAP											0													114.0	97.0	102.0					3																	58253048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.252G>C	3.37:g.58253048G>C	ENSP00000420315:p.Lys84Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K84N	ENST00000478253.1	37	c.252	CCDS2887.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005835	0.74932	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.27	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.79926	2.475	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.77043	-0.2734	10	0.38643	T	0.18	-21.1043	6.4538	0.21918	0.2793:0.0:0.7207:0.0	.	84;84	Q9BV23;F5H7L1	ABHD6_HUMAN;.	N	84	ENSP00000420315:K84N;ENSP00000295962:K84N;ENSP00000420408:K84N;ENSP00000418934:K84N	ENSP00000295962:K84N	K	+	3	2	ABHD6	58228088	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.719000	0.25881	2.468000	0.83385	0.555000	0.69702	AAG	ABHD6	-	prints_Epox_hydrolase-like	ENSG00000163686		0.498	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	273	0.00	0	G	NM_020676		58253048	58253048	+1	no_errors	ENST00000295962	ensembl	human	known	69_37n	missense	141	14.02	23	SNP	1.000	C
ABHD6	57406	genome.wustl.edu	37	3	58253048	58253048	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr3:58253048G>C	ENST00000478253.1	+	4	753	c.252G>C	c.(250-252)aaG>aaC	p.K84N	ABHD6_ENST00000295962.4_Missense_Mutation_p.K84N			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	84					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTGCCCACAAGGATATGTGGC	0.498																																						dbGAP											0													114.0	97.0	102.0					3																	58253048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.252G>C	3.37:g.58253048G>C	ENSP00000420315:p.Lys84Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K84N	ENST00000478253.1	37	c.252	CCDS2887.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005835	0.74932	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.27	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.79926	2.475	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.77043	-0.2734	10	0.38643	T	0.18	-21.1043	6.4538	0.21918	0.2793:0.0:0.7207:0.0	.	84;84	Q9BV23;F5H7L1	ABHD6_HUMAN;.	N	84	ENSP00000420315:K84N;ENSP00000295962:K84N;ENSP00000420408:K84N;ENSP00000418934:K84N	ENSP00000295962:K84N	K	+	3	2	ABHD6	58228088	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.719000	0.25881	2.468000	0.83385	0.555000	0.69702	AAG	ABHD6	-	prints_Epox_hydrolase-like	ENSG00000163686		0.498	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	105	0.00	0	G	NM_020676		58253048	58253048	+1	no_errors	ENST00000295962	ensembl	human	known	69_37n	missense	141	14.02	23	SNP	1.000	C
BAZ1B	9031	genome.wustl.edu	37	7	72925144	72925144	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr7:72925144A>T	ENST00000339594.4	-	2	484	c.146T>A	c.(145-147)aTt>aAt	p.I49N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I49N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	49	Mediates the tyrosine-protein kinase activity.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACGTCCAAATGCGCTCACT	0.473																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													242.0	201.0	215.0					7																	72925144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.146T>A	7.37:g.72925144A>T	ENSP00000342434:p.Ile49Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I49N	ENST00000339594.4	37	c.146	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612086	0.87258	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60920	0.15;0.15	5.5	5.5	0.81552	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76135	-0.3070	10	0.72032	D	0.01	-20.1805	15.0808	0.72113	1.0:0.0:0.0:0.0	.	49	Q9UIG0	BAZ1B_HUMAN	N	49	ENSP00000342434:I49N;ENSP00000385442:I49N	ENSP00000342434:I49N	I	-	2	0	BAZ1B	72563080	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.604000	0.90877	2.219000	0.72066	0.533000	0.62120	ATT	BAZ1B	-	pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146	ENSG00000009954		0.473	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	339	0.00	0	A	NM_032408		72925144	72925144	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	207	18.18	46	SNP	1.000	T
BAZ1B	9031	genome.wustl.edu	37	7	72925144	72925144	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr7:72925144A>T	ENST00000339594.4	-	2	484	c.146T>A	c.(145-147)aTt>aAt	p.I49N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I49N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	49	Mediates the tyrosine-protein kinase activity.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACGTCCAAATGCGCTCACT	0.473																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													242.0	201.0	215.0					7																	72925144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.146T>A	7.37:g.72925144A>T	ENSP00000342434:p.Ile49Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I49N	ENST00000339594.4	37	c.146	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612086	0.87258	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60920	0.15;0.15	5.5	5.5	0.81552	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76135	-0.3070	10	0.72032	D	0.01	-20.1805	15.0808	0.72113	1.0:0.0:0.0:0.0	.	49	Q9UIG0	BAZ1B_HUMAN	N	49	ENSP00000342434:I49N;ENSP00000385442:I49N	ENSP00000342434:I49N	I	-	2	0	BAZ1B	72563080	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.604000	0.90877	2.219000	0.72066	0.533000	0.62120	ATT	BAZ1B	-	pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146	ENSG00000009954		0.473	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	129	0.00	0	A	NM_032408		72925144	72925144	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	207	18.18	46	SNP	1.000	T
BSX	390259	genome.wustl.edu	37	11	122850010	122850010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr11:122850010G>A	ENST00000343035.2	-	2	466	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	140					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		AGCTCCACTCGTTCTGGCGTG	0.642																																						dbGAP											0													63.0	75.0	71.0					11																	122850010		2080	4207	6287	-	-	-	SO:0001587	stop_gained	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.418C>T	11.37:g.122850010G>A	ENSP00000344285:p.Arg140*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.R140*	ENST00000343035.2	37	c.418	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.494464	0.96339	.	.	ENSG00000188909	ENST00000343035	.	.	.	5.22	4.22	0.49857	.	0.110668	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6362	0.68692	0.0:0.0:0.7588:0.2412	.	.	.	.	X	140	.	ENSP00000344285:R140X	R	-	1	2	BSX	122355220	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.910000	0.39927	2.454000	0.82982	0.655000	0.94253	CGA	BSX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000188909		0.642	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	219	0.45	1	G	NM_001098169		122850010	122850010	-1	no_errors	ENST00000343035	ensembl	human	known	69_37n	nonsense	39	26.42	14	SNP	1.000	A
BSX	390259	genome.wustl.edu	37	11	122850010	122850010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr11:122850010G>A	ENST00000343035.2	-	2	466	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	140					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		AGCTCCACTCGTTCTGGCGTG	0.642																																						dbGAP											0													63.0	75.0	71.0					11																	122850010		2080	4207	6287	-	-	-	SO:0001587	stop_gained	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.418C>T	11.37:g.122850010G>A	ENSP00000344285:p.Arg140*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.R140*	ENST00000343035.2	37	c.418	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.494464	0.96339	.	.	ENSG00000188909	ENST00000343035	.	.	.	5.22	4.22	0.49857	.	0.110668	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6362	0.68692	0.0:0.0:0.7588:0.2412	.	.	.	.	X	140	.	ENSP00000344285:R140X	R	-	1	2	BSX	122355220	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.910000	0.39927	2.454000	0.82982	0.655000	0.94253	CGA	BSX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000188909		0.642	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	22	0.00	0	G	NM_001098169		122850010	122850010	-1	no_errors	ENST00000343035	ensembl	human	known	69_37n	nonsense	39	26.42	14	SNP	1.000	A
ELMSAN1	91748	genome.wustl.edu	37	14	74188061	74188061	+	Frame_Shift_Del	DEL	C	C	-	rs576413634		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr14:74188061delC	ENST00000286523.5	-	11	3658	c.2876delG	c.(2875-2877)cgafs	p.R959fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.R959fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	959					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCTGCGCTCTCGcccctcttc	0.637																																						dbGAP											0													100.0	69.0	79.0					14																	74188061		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2876delG	14.37:g.74188061delC	ENSP00000286523:p.Arg959fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R959fs	ENST00000286523.5	37	c.2876	CCDS9819.1	14																																																																																			C14orf43	-	NULL	ENSG00000156030		0.637	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	69	0.00	0	C	NM_194278		74188061	74188061	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	frame_shift_del	23	50.00	23	DEL	1.000	-
ELMSAN1	91748	genome.wustl.edu	37	14	74188061	74188061	+	Frame_Shift_Del	DEL	C	C	-	rs576413634		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr14:74188061delC	ENST00000286523.5	-	11	3658	c.2876delG	c.(2875-2877)cgafs	p.R959fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.R959fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	959					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCTGCGCTCTCGcccctcttc	0.637																																						dbGAP											0													100.0	69.0	79.0					14																	74188061		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2876delG	14.37:g.74188061delC	ENSP00000286523:p.Arg959fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R959fs	ENST00000286523.5	37	c.2876	CCDS9819.1	14																																																																																			C14orf43	-	NULL	ENSG00000156030		0.637	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	27	0.00	0	C	NM_194278		74188061	74188061	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	frame_shift_del	23	50.00	23	DEL	1.000	-
C1orf52	148423	genome.wustl.edu	37	1	85718266	85718266	+	3'UTR	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:85718266A>T	ENST00000471115.1	-	0	603				C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TGTCCAAAGAAACATTTCAAC	0.348																																						dbGAP											0													112.0	99.0	104.0					1																	85718266		2201	4295	6496	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.*46T>A	1.37:g.85718266A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX89|Q8TDK5|Q8TDK6	RNA	SNP	-	NULL	ENST00000471115.1	37	NULL	CCDS703.1	1																																																																																			C1orf52	-	-	ENSG00000162642		0.348	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf52	HGNC	protein_coding	OTTHUMT00000027616.2	55	0.00	0	A	NM_198077		85718266	85718266	-1	no_errors	ENST00000294661	ensembl	human	known	69_37n	rna	41	18.00	9	SNP	0.000	T
C1orf52	148423	genome.wustl.edu	37	1	85718266	85718266	+	3'UTR	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:85718266A>T	ENST00000471115.1	-	0	603				C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		TGTCCAAAGAAACATTTCAAC	0.348																																						dbGAP											0													112.0	99.0	104.0					1																	85718266		2201	4295	6496	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.*46T>A	1.37:g.85718266A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX89|Q8TDK5|Q8TDK6	RNA	SNP	-	NULL	ENST00000471115.1	37	NULL	CCDS703.1	1																																																																																			C1orf52	-	-	ENSG00000162642		0.348	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf52	HGNC	protein_coding	OTTHUMT00000027616.2	42	0.00	0	A	NM_198077		85718266	85718266	-1	no_errors	ENST00000294661	ensembl	human	known	69_37n	rna	41	18.00	9	SNP	0.000	T
C2orf71	388939	genome.wustl.edu	37	2	29293783	29293783	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr2:29293783C>T	ENST00000331664.5	-	1	3344	c.3345G>A	c.(3343-3345)gtG>gtA	p.V1115V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1115					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTTCCCAGACACTTTGGCTA	0.542																																						dbGAP											0													54.0	61.0	59.0					2																	29293783		2012	4178	6190	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3345G>A	2.37:g.29293783C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V1115	ENST00000331664.5	37	c.3345	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	34	0.00	0	C	NM_001029883		29293783	29293783	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	15	34.78	8	SNP	0.000	T
C2orf71	388939	genome.wustl.edu	37	2	29293783	29293783	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr2:29293783C>T	ENST00000331664.5	-	1	3344	c.3345G>A	c.(3343-3345)gtG>gtA	p.V1115V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1115					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTTCCCAGACACTTTGGCTA	0.542																																						dbGAP											0													54.0	61.0	59.0					2																	29293783		2012	4178	6190	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3345G>A	2.37:g.29293783C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V1115	ENST00000331664.5	37	c.3345	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	24	0.00	0	C	NM_001029883		29293783	29293783	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	15	34.78	8	SNP	0.000	T
CAPN3	825	genome.wustl.edu	37	15	42652165	42652165	+	Silent	SNP	C	C	T	rs527776745	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr15:42652165C>T	ENST00000397163.3	+	1	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CAPN3_ENST00000349748.3_Silent_p.I54I|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.I54I|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Silent_p.I54I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	54					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTCCTATTATCGGAGTGAAAG	0.502													C|||	2	0.000399361	0.0	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													134.0	151.0	145.0					15																	42652165		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.162C>T	15.37:g.42652165C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.I54	ENST00000397163.3	37	c.162	CCDS45245.1	15																																																																																			CAPN3	-	NULL	ENSG00000092529		0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	203	0.00	0	C			42652165	42652165	+1	no_errors	ENST00000397163	ensembl	human	known	69_37n	silent	306	17.60	66	SNP	0.016	T
CAPN3	825	genome.wustl.edu	37	15	42652165	42652165	+	Silent	SNP	C	C	T	rs527776745	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr15:42652165C>T	ENST00000397163.3	+	1	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CAPN3_ENST00000349748.3_Silent_p.I54I|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.I54I|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Silent_p.I54I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	54					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTCCTATTATCGGAGTGAAAG	0.502													C|||	2	0.000399361	0.0	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													134.0	151.0	145.0					15																	42652165		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.162C>T	15.37:g.42652165C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.I54	ENST00000397163.3	37	c.162	CCDS45245.1	15																																																																																			CAPN3	-	NULL	ENSG00000092529		0.502	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	263	0.00	0	C			42652165	42652165	+1	no_errors	ENST00000397163	ensembl	human	known	69_37n	silent	306	17.60	66	SNP	0.016	T
CD74	972	genome.wustl.edu	37	5	149784647	149784647	+	Splice_Site	DEL	C	C	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr5:149784647delC	ENST00000009530.7	-	5	539		c.e5+1		CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Splice_Site|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain						activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCTGCTGACCTTCCAGTCT	0.577			T	ROS1	NSCLC																																	dbGAP		Dom	yes		5	5q32	972	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""		E	0													108.0	107.0	107.0					5																	149784647		1942	4140	6082	-	-	-	SO:0001630	splice_region_variant	0				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.537+1G>-	5.37:g.149784647delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Splice_Site	DEL	-	e5+1	ENST00000009530.7	37	c.537+1	CCDS47309.1	5																																																																																			CD74	-	-	ENSG00000019582		0.577	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	HGNC	protein_coding	OTTHUMT00000374178.1	120	0.00	0	C	NM_004355	Intron	149784647	149784647	-1	no_errors	ENST00000009530	ensembl	human	known	69_37n	splice_site_del	57	44.55	49	DEL	1.000	-
CD74	972	genome.wustl.edu	37	5	149784647	149784647	+	Splice_Site	DEL	C	C	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr5:149784647delC	ENST00000009530.7	-	5	539		c.e5+1		CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Splice_Site|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain						activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCTGCTGACCTTCCAGTCT	0.577			T	ROS1	NSCLC																																	dbGAP		Dom	yes		5	5q32	972	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""		E	0													108.0	107.0	107.0					5																	149784647		1942	4140	6082	-	-	-	SO:0001630	splice_region_variant	0				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.537+1G>-	5.37:g.149784647delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Splice_Site	DEL	-	e5+1	ENST00000009530.7	37	c.537+1	CCDS47309.1	5																																																																																			CD74	-	-	ENSG00000019582		0.577	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	HGNC	protein_coding	OTTHUMT00000374178.1	67	0.00	0	C	NM_004355	Intron	149784647	149784647	-1	no_errors	ENST00000009530	ensembl	human	known	69_37n	splice_site_del	57	44.55	49	DEL	1.000	-
DHTKD1	55526	genome.wustl.edu	37	10	12129635	12129635	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr10:12129635G>A	ENST00000263035.4	+	4	686	c.624G>A	c.(622-624)atG>atA	p.M208I	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	208					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCTGAAAATGTCGGCCTACA	0.512																																						dbGAP											0													148.0	125.0	133.0					10																	12129635		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.624G>A	10.37:g.12129635G>A	ENSP00000263035:p.Met208Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.M208I	ENST00000263035.4	37	c.624	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683107	0.14907	.	.	ENSG00000181192	ENST00000263035	T	0.04603	3.59	5.26	4.36	0.52297	.	0.385387	0.33875	N	0.004463	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.31052	-0.9957	10	0.72032	D	0.01	-9.5468	14.0892	0.64977	0.0727:0.0:0.9273:0.0	.	208	Q96HY7	DHTK1_HUMAN	I	208	ENSP00000263035:M208I	ENSP00000263035:M208I	M	+	3	0	DHTKD1	12169641	0.993000	0.37304	0.040000	0.18447	0.760000	0.43138	2.232000	0.43018	1.358000	0.45922	0.655000	0.94253	ATG	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.512	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	188	0.00	0	G	NM_018706		12129635	12129635	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	missense	141	18.50	32	SNP	0.186	A
DHTKD1	55526	genome.wustl.edu	37	10	12129635	12129635	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr10:12129635G>A	ENST00000263035.4	+	4	686	c.624G>A	c.(622-624)atG>atA	p.M208I	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	208					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCTGAAAATGTCGGCCTACA	0.512																																						dbGAP											0													148.0	125.0	133.0					10																	12129635		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.624G>A	10.37:g.12129635G>A	ENSP00000263035:p.Met208Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.M208I	ENST00000263035.4	37	c.624	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683107	0.14907	.	.	ENSG00000181192	ENST00000263035	T	0.04603	3.59	5.26	4.36	0.52297	.	0.385387	0.33875	N	0.004463	T	0.04998	0.0134	N	0.25647	0.755	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.31052	-0.9957	10	0.72032	D	0.01	-9.5468	14.0892	0.64977	0.0727:0.0:0.9273:0.0	.	208	Q96HY7	DHTK1_HUMAN	I	208	ENSP00000263035:M208I	ENSP00000263035:M208I	M	+	3	0	DHTKD1	12169641	0.993000	0.37304	0.040000	0.18447	0.760000	0.43138	2.232000	0.43018	1.358000	0.45922	0.655000	0.94253	ATG	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.512	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	74	0.00	0	G	NM_018706		12129635	12129635	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	missense	141	18.50	32	SNP	0.186	A
COL13A1	1305	genome.wustl.edu	37	10	71562273	71562273	+	Silent	SNP	C	C	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr10:71562273C>A	ENST00000398978.3	+	1	586	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	COL13A1_ENST00000354547.3_Silent_p.R32R|COL13A1_ENST00000398972.3_Silent_p.R32R|COL13A1_ENST00000398968.3_Silent_p.R32R|COL13A1_ENST00000398971.3_Silent_p.R32R|COL13A1_ENST00000398969.3_Silent_p.R32R|COL13A1_ENST00000520133.1_Silent_p.R32R|COL13A1_ENST00000522165.1_Silent_p.R32R|COL13A1_ENST00000398964.3_Silent_p.R32R|COL13A1_ENST00000520267.1_Silent_p.R32R|COL13A1_ENST00000398966.3_Silent_p.R32R|COL13A1_ENST00000517713.1_Silent_p.R32R|COL13A1_ENST00000356340.3_Silent_p.R32R|COL13A1_ENST00000398974.3_Silent_p.R32R|COL13A1_ENST00000398973.3_Silent_p.R32R|COL13A1_ENST00000357811.3_Silent_p.R32R	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGTGGCGGCGCGGGCGGAGCG	0.751																																						dbGAP											0													5.0	6.0	6.0					10																	71562273		1479	3188	4667	-	-	-	SO:0001819	synonymous_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.94C>A	10.37:g.71562273C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Collagen	p.R32	ENST00000398978.3	37	c.94	CCDS44419.1	10																																																																																			COL13A1	-	NULL	ENSG00000197467		0.751	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	9	0.00	0	C	NM_005203		71562273	71562273	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	0.274	A
DIAPH2	1730	genome.wustl.edu	37	X	95993637	95993637	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chrX:95993637T>G	ENST00000324765.8	+	3	565	c.218T>G	c.(217-219)cTt>cGt	p.L73R	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L73R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L62R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L73R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L73R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	73					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAAACCTCTTATTCAACAT	0.338																																						dbGAP											0													55.0	52.0	53.0					X																	95993637		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.218T>G	X.37:g.95993637T>G	ENSP00000321348:p.Leu73Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.L73R	ENST00000324765.8	37	c.218	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449516	0.43531	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;T;T;T;D	0.81499	-1.5;-1.49;-1.44;-1.44;-1.5	5.62	5.62	0.85841	.	0.938658	0.08909	N	0.876143	D	0.84257	0.5432	L	0.39898	1.24	0.36623	D	0.875854	D;D;D	0.71674	0.979;0.979;0.998	P;P;D	0.63488	0.658;0.839;0.915	T	0.75671	-0.3237	10	0.12103	T	0.63	.	14.4885	0.67634	0.0:0.0:0.0:1.0	.	73;73;73	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	73;62;73;73;73;73	ENSP00000362152:L73R;ENSP00000362145:L62R;ENSP00000348082:L73R;ENSP00000362140:L73R;ENSP00000321348:L73R	ENSP00000321348:L73R	L	+	2	0	DIAPH2	95880293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	1.881000	0.54492	0.486000	0.48141	CTT	DIAPH2	-	NULL	ENSG00000147202		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	130	0.00	0	T	NM_006729, NM_007309		95993637	95993637	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	203	30.24	88	SNP	1.000	G
DIAPH2	1730	genome.wustl.edu	37	X	95993637	95993637	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chrX:95993637T>G	ENST00000324765.8	+	3	565	c.218T>G	c.(217-219)cTt>cGt	p.L73R	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L73R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L62R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L73R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L73R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	73					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAAACCTCTTATTCAACAT	0.338																																						dbGAP											0													55.0	52.0	53.0					X																	95993637		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.218T>G	X.37:g.95993637T>G	ENSP00000321348:p.Leu73Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.L73R	ENST00000324765.8	37	c.218	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449516	0.43531	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;T;T;T;D	0.81499	-1.5;-1.49;-1.44;-1.44;-1.5	5.62	5.62	0.85841	.	0.938658	0.08909	N	0.876143	D	0.84257	0.5432	L	0.39898	1.24	0.36623	D	0.875854	D;D;D	0.71674	0.979;0.979;0.998	P;P;D	0.63488	0.658;0.839;0.915	T	0.75671	-0.3237	10	0.12103	T	0.63	.	14.4885	0.67634	0.0:0.0:0.0:1.0	.	73;73;73	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	73;62;73;73;73;73	ENSP00000362152:L73R;ENSP00000362145:L62R;ENSP00000348082:L73R;ENSP00000362140:L73R;ENSP00000321348:L73R	ENSP00000321348:L73R	L	+	2	0	DIAPH2	95880293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	1.881000	0.54492	0.486000	0.48141	CTT	DIAPH2	-	NULL	ENSG00000147202		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	339	0.00	0	T	NM_006729, NM_007309		95993637	95993637	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	203	30.24	88	SNP	1.000	G
DPYSL5	56896	genome.wustl.edu	37	2	27167565	27167565	+	Silent	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr2:27167565G>A	ENST00000288699.6	+	12	1640	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	DPYSL5_ENST00000401478.1_Silent_p.G494G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	494					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTACCTGGGGGATGTCGCTG	0.567																																						dbGAP											0													87.0	82.0	84.0					2																	27167565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1482G>A	2.37:g.27167565G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G494	ENST00000288699.6	37	c.1482	CCDS1730.1	2																																																																																			DPYSL5	-	NULL	ENSG00000157851		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	171	0.58	1	G	NM_020134		27167565	27167565	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	silent	66	37.14	39	SNP	1.000	A
DPYSL5	56896	genome.wustl.edu	37	2	27167565	27167565	+	Silent	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr2:27167565G>A	ENST00000288699.6	+	12	1640	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	DPYSL5_ENST00000401478.1_Silent_p.G494G	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	494					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTACCTGGGGGATGTCGCTG	0.567																																						dbGAP											0													87.0	82.0	84.0					2																	27167565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1482G>A	2.37:g.27167565G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G494	ENST00000288699.6	37	c.1482	CCDS1730.1	2																																																																																			DPYSL5	-	NULL	ENSG00000157851		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	80	0.00	0	G	NM_020134		27167565	27167565	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	silent	66	37.14	39	SNP	1.000	A
EDA2R	60401	genome.wustl.edu	37	X	65819449	65819449	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chrX:65819449C>T	ENST00000374719.3	-	6	827	c.771G>A	c.(769-771)ctG>ctA	p.L257L	EDA2R_ENST00000253392.5_Silent_p.L278L|EDA2R_ENST00000451436.2_Silent_p.L133L|EDA2R_ENST00000450752.1_Silent_p.L278L|EDA2R_ENST00000396050.1_Silent_p.L257L|EDA2R_ENST00000456230.2_Silent_p.L257L	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	257					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.L257L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGCAGGTCCAGCTCTGTGC	0.572																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											44.0	37.0	39.0					X																	65819449		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.771G>A	X.37:g.65819449C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg	p.L278	ENST00000374719.3	37	c.834	CCDS14386.1	X																																																																																			EDA2R	-	prints_TNFR_27	ENSG00000131080		0.572	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	60	0.00	0	C	NM_021783		65819449	65819449	-1	no_errors	ENST00000253392	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	1.000	T
EDA2R	60401	genome.wustl.edu	37	X	65819449	65819449	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chrX:65819449C>T	ENST00000374719.3	-	6	827	c.771G>A	c.(769-771)ctG>ctA	p.L257L	EDA2R_ENST00000253392.5_Silent_p.L278L|EDA2R_ENST00000451436.2_Silent_p.L133L|EDA2R_ENST00000450752.1_Silent_p.L278L|EDA2R_ENST00000396050.1_Silent_p.L257L|EDA2R_ENST00000456230.2_Silent_p.L257L	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	257					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.L257L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGCAGGTCCAGCTCTGTGC	0.572																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											44.0	37.0	39.0					X																	65819449		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.771G>A	X.37:g.65819449C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg	p.L278	ENST00000374719.3	37	c.834	CCDS14386.1	X																																																																																			EDA2R	-	prints_TNFR_27	ENSG00000131080		0.572	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	43	0.00	0	C	NM_021783		65819449	65819449	-1	no_errors	ENST00000253392	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	1.000	T
EEF2K	29904	genome.wustl.edu	37	16	22291592	22291592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr16:22291592G>T	ENST00000263026.5	+	17	2437	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	655					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.E655*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGAGGGCGGTGAGTACGACGG	0.607																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											1	Substitution - Nonsense(1)	lung(1)											107.0	82.0	90.0					16																	22291592		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1963G>T	16.37:g.22291592G>T	ENSP00000263026:p.Glu655*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.E655*	ENST00000263026.5	37	c.1963	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	40	7.992702	0.98599	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.682	19.563	0.95380	0.0:0.0:1.0:0.0	.	.	.	.	X	655	.	ENSP00000263026:E655X	E	+	1	0	EEF2K	22199093	1.000000	0.71417	0.809000	0.32408	0.023000	0.10783	9.439000	0.97543	2.630000	0.89119	0.561000	0.74099	GAG	EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.607	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	90	0.00	0	G	NM_013302		22291592	22291592	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	nonsense	37	32.73	18	SNP	1.000	T
EEF2K	29904	genome.wustl.edu	37	16	22291592	22291592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr16:22291592G>T	ENST00000263026.5	+	17	2437	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	655					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.E655*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGAGGGCGGTGAGTACGACGG	0.607																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											1	Substitution - Nonsense(1)	lung(1)											107.0	82.0	90.0					16																	22291592		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1963G>T	16.37:g.22291592G>T	ENSP00000263026:p.Glu655*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.E655*	ENST00000263026.5	37	c.1963	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	40	7.992702	0.98599	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.682	19.563	0.95380	0.0:0.0:1.0:0.0	.	.	.	.	X	655	.	ENSP00000263026:E655X	E	+	1	0	EEF2K	22199093	1.000000	0.71417	0.809000	0.32408	0.023000	0.10783	9.439000	0.97543	2.630000	0.89119	0.561000	0.74099	GAG	EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.607	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	28	0.00	0	G	NM_013302		22291592	22291592	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	nonsense	37	32.73	18	SNP	1.000	T
FGL2	10875	genome.wustl.edu	37	7	76825930	76825930	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr7:76825930C>T	ENST00000248598.5	-	2	1018	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	329	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AACGTGTAAACGATATTTGAG	0.363																																						dbGAP											0													166.0	157.0	160.0					7																	76825930		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.986G>A	7.37:g.76825930C>T	ENSP00000248598:p.Arg329His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R329H	ENST00000248598.5	37	c.986	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485419	0.84854	.	.	ENSG00000127951	ENST00000248598	T	0.78924	-1.22	6.03	6.03	0.97812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92421	0.5945	10	0.87932	D	0	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	329	Q14314	FGL2_HUMAN	H	329	ENSP00000248598:R329H	ENSP00000248598:R329H	R	-	2	0	FGL2	76663866	1.000000	0.71417	0.999000	0.59377	0.611000	0.37282	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CGT	FGL2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000127951		0.363	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1	194	0.00	0	C	NM_006682		76825930	76825930	-1	no_errors	ENST00000248598	ensembl	human	known	69_37n	missense	263	23.10	79	SNP	1.000	T
FGL2	10875	genome.wustl.edu	37	7	76825930	76825930	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr7:76825930C>T	ENST00000248598.5	-	2	1018	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	329	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AACGTGTAAACGATATTTGAG	0.363																																						dbGAP											0													166.0	157.0	160.0					7																	76825930		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.986G>A	7.37:g.76825930C>T	ENSP00000248598:p.Arg329His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R329H	ENST00000248598.5	37	c.986	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485419	0.84854	.	.	ENSG00000127951	ENST00000248598	T	0.78924	-1.22	6.03	6.03	0.97812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92421	0.5945	10	0.87932	D	0	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	329	Q14314	FGL2_HUMAN	H	329	ENSP00000248598:R329H	ENSP00000248598:R329H	R	-	2	0	FGL2	76663866	1.000000	0.71417	0.999000	0.59377	0.611000	0.37282	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CGT	FGL2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000127951		0.363	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1	324	0.00	0	C	NM_006682		76825930	76825930	-1	no_errors	ENST00000248598	ensembl	human	known	69_37n	missense	263	23.10	79	SNP	1.000	T
FUK	197258	genome.wustl.edu	37	16	70504321	70504322	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr16:70504321_70504322insTG	ENST00000288078.6	+	11	1292_1293	c.1060_1061insTG	c.(1060-1062)cagfs	p.Q354fs	FUK_ENST00000571514.1_De_novo_Start_OutOfFrame|FUK_ENST00000378912.2_Frame_Shift_Ins_p.Q386fs	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	354						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGTGCACTCCCAGGTGGAGGTG	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	Exception_encountered	16.37:g.70504321_70504322insTG	ENSP00000288078:p.Gln354fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Frame_Shift_Ins	INS	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.Q386fs	ENST00000288078.6	37	c.1156_1157	CCDS10891.2	16																																																																																			FUK	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like	ENSG00000157353		0.624	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	45	0.00	0	-	NM_145059		70504321	70504322	+1	no_errors	ENST00000378912	ensembl	human	known	69_37n	frame_shift_ins	39	81.60	173	INS	0.999:1.000	TG
FUK	197258	genome.wustl.edu	37	16	70504321	70504322	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr16:70504321_70504322insTG	ENST00000288078.6	+	11	1292_1293	c.1060_1061insTG	c.(1060-1062)cagfs	p.Q354fs	FUK_ENST00000571514.1_De_novo_Start_OutOfFrame|FUK_ENST00000378912.2_Frame_Shift_Ins_p.Q386fs	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	354						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGTGCACTCCCAGGTGGAGGTG	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	Exception_encountered	16.37:g.70504321_70504322insTG	ENSP00000288078:p.Gln354fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Frame_Shift_Ins	INS	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.Q386fs	ENST00000288078.6	37	c.1156_1157	CCDS10891.2	16																																																																																			FUK	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like	ENSG00000157353		0.624	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	29	0.00	0	-	NM_145059		70504321	70504322	+1	no_errors	ENST00000378912	ensembl	human	known	69_37n	frame_shift_ins	39	81.60	173	INS	0.999:1.000	TG
GOLGA8DP	100132979	genome.wustl.edu	37	15	22710187	22710187	+	RNA	SNP	A	A	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr15:22710187A>G	ENST00000314246.8	-	0	899							Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTTCCACTCCATACGTGCTTT	0.562																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22710187A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	a	0.419	-0.909179	0.02434	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	.	.	.	.	.	.	.	.	T	0.24624	0.0597	.	.	.	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.12116	-1.0560	5	0.39692	T	0.17	.	4.4341	0.11542	0.3376:0.0:0.6624:0.0	.	1	F8WBT8	.	T	1;1;219	.	ENSP00000327024:M1T	M	-	2	0	AC116165.1	20261551	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.800000	0.27042	-1.299000	0.02344	-1.288000	0.01363	ATG	GOLGA8DP	-	-	ENSG00000185182		0.562	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1	11	0.00	0	A	NR_027407		22710187	22710187	-1	no_errors	ENST00000314246	ensembl	human	known	69_37n	rna	22	26.67	8	SNP	0.001	G
GPR32	2854	genome.wustl.edu	37	19	51273962	51273962	+	Silent	SNP	G	G	T	rs35300823	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr19:51273962G>T	ENST00000270590.4	+	1	242	c.105G>T	c.(103-105)ctG>ctT	p.L35L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	35					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGGATGCCTGTCTGAGGAGG	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											0													143.0	114.0	124.0					19																	51273962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.105G>T	19.37:g.51273962G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q502U7|Q6NWS5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.L35	ENST00000270590.4	37	c.105	CCDS12801.1	19																																																																																			GPR32	-	NULL	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	163	0.00	0	G			51273962	51273962	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	0.004	T
GPR32	2854	genome.wustl.edu	37	19	51273962	51273962	+	Silent	SNP	G	G	T	rs35300823	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr19:51273962G>T	ENST00000270590.4	+	1	242	c.105G>T	c.(103-105)ctG>ctT	p.L35L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	35					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGGATGCCTGTCTGAGGAGG	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											0													143.0	114.0	124.0					19																	51273962		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.105G>T	19.37:g.51273962G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q502U7|Q6NWS5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.L35	ENST00000270590.4	37	c.105	CCDS12801.1	19																																																																																			GPR32	-	NULL	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	32	0.00	0	G			51273962	51273962	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	0.004	T
GRIA1	2890	genome.wustl.edu	37	5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr5:153149914G>A	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	737					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CACCATGAAGGTGGGAGGTAA	0.502																																						dbGAP											0													104.0	89.0	94.0					5																	153149914		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2209G>A	5.37:g.153149914G>A	ENSP00000285900:p.Val737Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V747M	ENST00000285900.5	37	c.2239	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375003	0.82573	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.97;0.97;0.998;0.974;0.997	D	0.83842	0.0258	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	747;747;657;737;737	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	737;737;657;691;737;670;668;747;747	ENSP00000285900:V737M;ENSP00000427920:V657M;ENSP00000339343:V737M;ENSP00000427864:V670M;ENSP00000442108:V668M;ENSP00000428994:V747M;ENSP00000415569:V747M	ENSP00000285900:V737M	V	+	1	0	GRIA1	153130107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	GTG	GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	312	0.00	0	G			153149914	153149914	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	missense	145	16.18	28	SNP	1.000	A
GRIA1	2890	genome.wustl.edu	37	5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr5:153149914G>A	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	737					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CACCATGAAGGTGGGAGGTAA	0.502																																						dbGAP											0													104.0	89.0	94.0					5																	153149914		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2209G>A	5.37:g.153149914G>A	ENSP00000285900:p.Val737Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V747M	ENST00000285900.5	37	c.2239	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375003	0.82573	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.97;0.97;0.998;0.974;0.997	D	0.83842	0.0258	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	747;747;657;737;737	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	737;737;657;691;737;670;668;747;747	ENSP00000285900:V737M;ENSP00000427920:V657M;ENSP00000339343:V737M;ENSP00000427864:V670M;ENSP00000442108:V668M;ENSP00000428994:V747M;ENSP00000415569:V747M	ENSP00000285900:V737M	V	+	1	0	GRIA1	153130107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	GTG	GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	220	0.00	0	G			153149914	153149914	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	missense	145	16.18	28	SNP	1.000	A
HLA-DRB5	3127	genome.wustl.edu	37	6	32489822	32489822	+	Missense_Mutation	SNP	C	C	T	rs115417906	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr6:32489822C>T	ENST00000374975.3	-	2	292	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGTCACCGCCCGGTACTCCCC	0.617																																						dbGAP											0													38.0	35.0	36.0					6																	32489822		2160	4212	6372	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.230G>A	6.37:g.32489822C>T	ENSP00000364114:p.Arg77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.R77Q	ENST00000374975.3	37	c.230	CCDS4751.1	6	302	0.1382783882783883	31	0.06300813008130081	57	0.1574585635359116	83	0.1451048951048951	131	0.17282321899736147	.	15.37	2.814317	0.50527	.	.	ENSG00000198502	ENST00000374975	T	0.00356	7.9	4.72	-2.23	0.06930	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	1.326340	0.05441	N	0.547586	T	0.00144	0.0004	M	0.84585	2.705	0.09310	N	1	B;B	0.32918	0.094;0.39	B;B	0.20184	0.016;0.028	T	0.19386	-1.0307	10	0.66056	D	0.02	.	9.4942	0.38978	0.6955:0.1936:0.1109:0.0	.	4;77	Q29973;Q30154	.;DRB5_HUMAN	Q	77	ENSP00000364114:R77Q	ENSP00000364114:R77Q	R	-	2	0	HLA-DRB5	32597800	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.525000	0.06214	-0.241000	0.09681	0.430000	0.28490	CGG	HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	20	0.00	0	C	NM_002125		32489822	32489822	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.000	T
HLA-DRB1	3123	genome.wustl.edu	37	6	32557461	32557461	+	Missense_Mutation	SNP	A	A	G	rs35053532	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr6:32557461A>G	ENST00000360004.5	-	1	164	c.59T>C	c.(58-60)aTg>aCg	p.M20T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCTCAGCACCATCAGTGTCAC	0.572										Multiple Myeloma(14;0.17)																												dbGAP											0													83.0	99.0	93.0					6																	32557461		1511	2709	4220	-	-	-	SO:0001583	missense	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.59T>C	6.37:g.32557461A>G	ENSP00000353099:p.Met20Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.M20T	ENST00000360004.5	37	c.59	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	4.424	0.078455	0.08533	.	.	ENSG00000196126	ENST00000360004	T	0.00253	8.43	4.4	2.05	0.26809	MHC classes I/II-like antigen recognition protein (1);	1.753860	0.02864	N	0.130685	T	0.00073	0.0002	L	0.51422	1.61	0.09310	N	0.999999	B	0.20887	0.049	B	0.21360	0.034	T	0.43097	-0.9412	10	0.59425	D	0.04	.	5.3115	0.15833	0.7604:0.0:0.2396:0.0	rs35053532	20	P01911	2B1F_HUMAN	T	20	ENSP00000353099:M20T	ENSP00000353099:M20T	M	-	2	0	HLA-DRB1	32665439	0.226000	0.23696	0.380000	0.26093	0.101000	0.19017	1.241000	0.32743	0.270000	0.21984	0.379000	0.24179	ATG	HLA-DRB1	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000196126		0.572	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	221	0.90	2	A	NM_002124		32557461	32557461	-1	no_errors	ENST00000360004	ensembl	human	known	69_37n	missense	163	12.83	24	SNP	0.430	G
HMCN1	83872	genome.wustl.edu	37	1	185833711	185833711	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:185833711A>C	ENST00000271588.4	+	3	678	c.449A>C	c.(448-450)tAc>tCc	p.Y150S	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y150S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	150	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCAAAGATTACCGGCTCACC	0.418																																						dbGAP											0													113.0	104.0	107.0					1																	185833711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.449A>C	1.37:g.185833711A>C	ENSP00000271588:p.Tyr150Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Y150S	ENST00000271588.4	37	c.449	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516387	0.85495	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.10860	2.83;2.83	5.43	5.43	0.79202	von Willebrand factor, type A (1);	0.060376	0.64402	D	0.000002	T	0.32734	0.0839	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.04885	-1.0920	10	0.87932	D	0	.	15.4821	0.75537	1.0:0.0:0.0:0.0	.	150	Q96RW7	HMCN1_HUMAN	S	150	ENSP00000271588:Y150S;ENSP00000356462:Y150S	ENSP00000271588:Y150S	Y	+	2	0	HMCN1	184100334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.050000	0.60909	0.533000	0.62120	TAC	HMCN1	-	NULL	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	176	0.00	0	A	NM_031935		185833711	185833711	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	170	11.86	23	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185833711	185833711	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:185833711A>C	ENST00000271588.4	+	3	678	c.449A>C	c.(448-450)tAc>tCc	p.Y150S	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y150S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	150	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCAAAGATTACCGGCTCACC	0.418																																						dbGAP											0													113.0	104.0	107.0					1																	185833711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.449A>C	1.37:g.185833711A>C	ENSP00000271588:p.Tyr150Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Y150S	ENST00000271588.4	37	c.449	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516387	0.85495	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.10860	2.83;2.83	5.43	5.43	0.79202	von Willebrand factor, type A (1);	0.060376	0.64402	D	0.000002	T	0.32734	0.0839	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.04885	-1.0920	10	0.87932	D	0	.	15.4821	0.75537	1.0:0.0:0.0:0.0	.	150	Q96RW7	HMCN1_HUMAN	S	150	ENSP00000271588:Y150S;ENSP00000356462:Y150S	ENSP00000271588:Y150S	Y	+	2	0	HMCN1	184100334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.050000	0.60909	0.533000	0.62120	TAC	HMCN1	-	NULL	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	207	0.48	1	A	NM_031935		185833711	185833711	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	170	11.86	23	SNP	1.000	C
IFT140	9742	genome.wustl.edu	37	16	1616239	1616240	+	Frame_Shift_Del	DEL	TG	TG	-	rs372830577|rs35433680	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr16:1616239_1616240delTG	ENST00000426508.2	-	16	2186_2187	c.1823_1824delCA	c.(1822-1824)acafs	p.T608fs	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	608					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGACGGTCACTGTGTCCATTTC	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1823_1824delCA	16.37:g.1616241_1616242delTG	ENSP00000406012:p.Thr608fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T608fs	ENST00000426508.2	37	c.1824_1823	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.465	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	359	0.00	0	TG	NM_014714		1616239	1616240	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	frame_shift_del	295	11.64	39	DEL	0.006:0.882	-
IFT140	9742	genome.wustl.edu	37	16	1616239	1616240	+	Frame_Shift_Del	DEL	TG	TG	-	rs372830577|rs35433680	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr16:1616239_1616240delTG	ENST00000426508.2	-	16	2186_2187	c.1823_1824delCA	c.(1822-1824)acafs	p.T608fs	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	608					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGACGGTCACTGTGTCCATTTC	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1823_1824delCA	16.37:g.1616241_1616242delTG	ENSP00000406012:p.Thr608fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T608fs	ENST00000426508.2	37	c.1824_1823	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.465	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	234	0.00	0	TG	NM_014714		1616239	1616240	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	frame_shift_del	295	11.64	39	DEL	0.006:0.882	-
IPCEF1	26034	genome.wustl.edu	37	6	154481152	154481152	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr6:154481152C>G	ENST00000265198.4	-	12	1280	c.1125G>C	c.(1123-1125)atG>atC	p.M375I	IPCEF1_ENST00000519344.1_Missense_Mutation_p.M347I|IPCEF1_ENST00000367220.4_Missense_Mutation_p.M376I|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.M376I	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	375					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ACTGGTTAATCATGGCCAGAT	0.443																																						dbGAP											0													57.0	58.0	58.0					6																	154481152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1125G>C	6.37:g.154481152C>G	ENSP00000265198:p.Met375Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M376I	ENST00000265198.4	37	c.1128	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	C	5.950	0.359357	0.11239	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.47	4.58	0.56647	.	0.217011	0.47852	D	0.000211	T	0.02649	0.0080	L	0.39020	1.185	0.22803	N	0.998715	B;P;P	0.40230	0.205;0.473;0.708	B;B;B	0.37480	0.035;0.19;0.251	T	0.29397	-1.0013	10	0.02654	T	1	-24.4037	9.7505	0.40473	0.0:0.664:0.264:0.072	.	375;376;347	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	I	375;376;376;347	ENSP00000265198:M375I;ENSP00000394751:M376I;ENSP00000356189:M376I;ENSP00000430287:M347I	ENSP00000265198:M375I	M	-	3	0	IPCEF1	154522844	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	0.397000	0.20883	1.256000	0.44068	0.467000	0.42956	ATG	IPCEF1	-	NULL	ENSG00000074706		0.443	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	235	0.00	0	C	NM_001130699		154481152	154481152	-1	no_errors	ENST00000367220	ensembl	human	known	69_37n	missense	141	15.06	25	SNP	1.000	G
IPCEF1	26034	genome.wustl.edu	37	6	154481152	154481152	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr6:154481152C>G	ENST00000265198.4	-	12	1280	c.1125G>C	c.(1123-1125)atG>atC	p.M375I	IPCEF1_ENST00000519344.1_Missense_Mutation_p.M347I|IPCEF1_ENST00000367220.4_Missense_Mutation_p.M376I|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.M376I	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	375					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ACTGGTTAATCATGGCCAGAT	0.443																																						dbGAP											0													57.0	58.0	58.0					6																	154481152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1125G>C	6.37:g.154481152C>G	ENSP00000265198:p.Met375Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M376I	ENST00000265198.4	37	c.1128	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	C	5.950	0.359357	0.11239	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.47	4.58	0.56647	.	0.217011	0.47852	D	0.000211	T	0.02649	0.0080	L	0.39020	1.185	0.22803	N	0.998715	B;P;P	0.40230	0.205;0.473;0.708	B;B;B	0.37480	0.035;0.19;0.251	T	0.29397	-1.0013	10	0.02654	T	1	-24.4037	9.7505	0.40473	0.0:0.664:0.264:0.072	.	375;376;347	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	I	375;376;376;347	ENSP00000265198:M375I;ENSP00000394751:M376I;ENSP00000356189:M376I;ENSP00000430287:M347I	ENSP00000265198:M375I	M	-	3	0	IPCEF1	154522844	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	0.397000	0.20883	1.256000	0.44068	0.467000	0.42956	ATG	IPCEF1	-	NULL	ENSG00000074706		0.443	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	222	0.00	0	C	NM_001130699		154481152	154481152	-1	no_errors	ENST00000367220	ensembl	human	known	69_37n	missense	141	15.06	25	SNP	1.000	G
IQCH	64799	genome.wustl.edu	37	15	67652219	67652219	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr15:67652219G>A	ENST00000335894.4	+	8	815	c.749G>A	c.(748-750)aGg>aAg	p.R250K	IQCH_ENST00000358767.3_Missense_Mutation_p.R77K|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	250										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATCATGATAGGAAGGTCTGT	0.418																																						dbGAP											0													270.0	247.0	255.0					15																	67652219		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.749G>A	15.37:g.67652219G>A	ENSP00000336861:p.Arg250Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R250K	ENST00000335894.4	37	c.749	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085071	0.20390	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.42131	0.99;0.98	5.78	-8.22	0.01037	.	1.091720	0.06821	N	0.792232	T	0.16599	0.0399	N	0.16307	0.4	0.23720	N	0.997026	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31696	-0.9934	10	0.05833	T	0.94	1.5334	5.3211	0.15881	0.5981:0.0988:0.1949:0.1082	.	250;77	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	K	77;250	ENSP00000351617:R77K;ENSP00000336861:R250K	ENSP00000336861:R250K	R	+	2	0	IQCH	65439273	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-1.361000	0.02597	-1.126000	0.02929	-0.302000	0.09304	AGG	IQCH	-	NULL	ENSG00000103599		0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	223	0.00	0	G	NM_022784		67652219	67652219	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	153	14.04	25	SNP	0.000	A
IQCH	64799	genome.wustl.edu	37	15	67652219	67652219	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr15:67652219G>A	ENST00000335894.4	+	8	815	c.749G>A	c.(748-750)aGg>aAg	p.R250K	IQCH_ENST00000358767.3_Missense_Mutation_p.R77K|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	250										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATCATGATAGGAAGGTCTGT	0.418																																						dbGAP											0													270.0	247.0	255.0					15																	67652219		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.749G>A	15.37:g.67652219G>A	ENSP00000336861:p.Arg250Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R250K	ENST00000335894.4	37	c.749	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085071	0.20390	.	.	ENSG00000103599	ENST00000358767;ENST00000335894	T;T	0.42131	0.99;0.98	5.78	-8.22	0.01037	.	1.091720	0.06821	N	0.792232	T	0.16599	0.0399	N	0.16307	0.4	0.23720	N	0.997026	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31696	-0.9934	10	0.05833	T	0.94	1.5334	5.3211	0.15881	0.5981:0.0988:0.1949:0.1082	.	250;77	Q86VS3;Q86VS3-3	IQCH_HUMAN;.	K	77;250	ENSP00000351617:R77K;ENSP00000336861:R250K	ENSP00000336861:R250K	R	+	2	0	IQCH	65439273	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-1.361000	0.02597	-1.126000	0.02929	-0.302000	0.09304	AGG	IQCH	-	NULL	ENSG00000103599		0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	193	0.00	0	G	NM_022784		67652219	67652219	+1	no_errors	ENST00000335894	ensembl	human	known	69_37n	missense	153	14.04	25	SNP	0.000	A
KRT6C	286887	genome.wustl.edu	37	12	52867105	52867105	+	Silent	SNP	G	G	A	rs1053684		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr12:52867105G>A	ENST00000252250.6	-	1	464	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	139	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTGGTTGACGGTGACCTCTT	0.637																																						dbGAP											0													51.0	34.0	41.0					12																	52867105		2149	3730	5879	-	-	-	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.417C>T	12.37:g.52867105G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T139	ENST00000252250.6	37	c.417	CCDS8829.1	12																																																																																			KRT6C	-	NULL	ENSG00000170465		0.637	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	62	0.00	0	G	NM_173086		52867105	52867105	-1	no_errors	ENST00000252250	ensembl	human	known	69_37n	silent	26	10.34	3	SNP	0.045	A
KRT78	196374	genome.wustl.edu	37	12	53242469	53242470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr12:53242469_53242470insC	ENST00000304620.4	-	1	308_309	c.245_246insG	c.(244-246)ggcfs	p.G82fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	82	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCTTGGATGCCCCCCGGAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.246dupG	12.37:g.53242475_53242475dupC	ENSP00000306261:p.Gly82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I83fs	ENST00000304620.4	37	c.246_245	CCDS8840.1	12																																																																																			KRT78	-	NULL	ENSG00000170423		0.629	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	65	0.00	0	-	NM_173352		53242469	53242470	-1	no_errors	ENST00000304620	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	C
KRT78	196374	genome.wustl.edu	37	12	53242469	53242470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr12:53242469_53242470insC	ENST00000304620.4	-	1	308_309	c.245_246insG	c.(244-246)ggcfs	p.G82fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	82	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCTTGGATGCCCCCCGGAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.246dupG	12.37:g.53242475_53242475dupC	ENSP00000306261:p.Gly82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I83fs	ENST00000304620.4	37	c.246_245	CCDS8840.1	12																																																																																			KRT78	-	NULL	ENSG00000170423		0.629	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	33	0.00	0	-	NM_173352		53242469	53242470	-1	no_errors	ENST00000304620	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	C
LRP1	4035	genome.wustl.edu	37	12	57560722	57560723	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr12:57560722_57560723insC	ENST00000243077.3	+	18	3273_3274	c.2807_2808insC	c.(2806-2811)tgccccfs	p.CP936fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	936	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCGCACCTGCCCCCCCAACC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2814dupC	12.37:g.57560729_57560729dupC	ENSP00000243077:p.Cys936fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N939fs	ENST00000243077.3	37	c.2807_2808	CCDS8932.1	12																																																																																			LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	47	0.00	0	-	NM_002332		57560722	57560723	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	1.000:1.000	C
LRRC16B	90668	genome.wustl.edu	37	14	24534217	24534218	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr14:24534217_24534218insC	ENST00000342740.5	+	33	3285_3286	c.3131_3132insC	c.(3130-3135)ctgcctfs	p.P1045fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P141fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1045						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGCACCGCTGCCTCCACTCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		Exception_encountered	14.37:g.24534217_24534218insC	ENSP00000340467:p.Pro1045fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1045fs	ENST00000342740.5	37	c.3131_3132	CCDS32054.1	14																																																																																			LRRC16B	-	NULL	ENSG00000186648		0.644	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	62	0.00	0	-	NM_138360		24534217	24534218	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	frame_shift_ins	25	37.50	15	INS	1.000:1.000	C
LRRC16B	90668	genome.wustl.edu	37	14	24534217	24534218	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr14:24534217_24534218insC	ENST00000342740.5	+	33	3285_3286	c.3131_3132insC	c.(3130-3135)ctgcctfs	p.P1045fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P141fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1045						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGCACCGCTGCCTCCACTCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		Exception_encountered	14.37:g.24534217_24534218insC	ENSP00000340467:p.Pro1045fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1045fs	ENST00000342740.5	37	c.3131_3132	CCDS32054.1	14																																																																																			LRRC16B	-	NULL	ENSG00000186648		0.644	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	34	0.00	0	-	NM_138360		24534217	24534218	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	frame_shift_ins	25	37.50	15	INS	1.000:1.000	C
MCAT	27349	genome.wustl.edu	37	22	43533197	43533197	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr22:43533197C>A	ENST00000290429.6	-	3	664	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	207					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCCAAACAGGCGAAGTTGAAC	0.532											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													145.0	135.0	139.0					22																	43533197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.619G>T	22.37:g.43533197C>A	ENSP00000290429:p.Ala207Ser	Somatic	917	WXS	Illumina GAIIx	Phase_IV	B0QY72|O95510|O95511	Missense_Mutation	SNP	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	p.A207S	ENST00000290429.6	37	c.619	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757033	0.69648	.	.	ENSG00000100294	ENST00000290429	T	0.51817	0.69	5.13	5.13	0.70059	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.84585	2.705	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.78043	-0.2358	10	0.66056	D	0.02	-16.0099	18.5829	0.91178	0.0:1.0:0.0:0.0	.	207	Q8IVS2	FABD_HUMAN	S	207	ENSP00000290429:A207S	ENSP00000290429:A207S	A	-	1	0	MCAT	41863141	1.000000	0.71417	0.938000	0.37757	0.347000	0.29111	7.270000	0.78493	2.387000	0.81309	0.591000	0.81541	GCC	MCAT	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	ENSG00000100294		0.532	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	HGNC	protein_coding	OTTHUMT00000319677.2	193	0.00	0	C	NM_173467		43533197	43533197	-1	no_errors	ENST00000290429	ensembl	human	known	69_37n	missense	39	43.48	30	SNP	1.000	A
MCAT	27349	genome.wustl.edu	37	22	43533197	43533197	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr22:43533197C>A	ENST00000290429.6	-	3	664	c.619G>T	c.(619-621)Gcc>Tcc	p.A207S	MCAT_ENST00000327555.5_Intron	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	207					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCCAAACAGGCGAAGTTGAAC	0.532											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													145.0	135.0	139.0					22																	43533197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.619G>T	22.37:g.43533197C>A	ENSP00000290429:p.Ala207Ser	Somatic	917	WXS	Illumina GAIIx	Phase_IV	B0QY72|O95510|O95511	Missense_Mutation	SNP	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	p.A207S	ENST00000290429.6	37	c.619	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757033	0.69648	.	.	ENSG00000100294	ENST00000290429	T	0.51817	0.69	5.13	5.13	0.70059	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.84585	2.705	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.78043	-0.2358	10	0.66056	D	0.02	-16.0099	18.5829	0.91178	0.0:1.0:0.0:0.0	.	207	Q8IVS2	FABD_HUMAN	S	207	ENSP00000290429:A207S	ENSP00000290429:A207S	A	-	1	0	MCAT	41863141	1.000000	0.71417	0.938000	0.37757	0.347000	0.29111	7.270000	0.78493	2.387000	0.81309	0.591000	0.81541	GCC	MCAT	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	ENSG00000100294		0.532	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	HGNC	protein_coding	OTTHUMT00000319677.2	62	0.00	0	C	NM_173467		43533197	43533197	-1	no_errors	ENST00000290429	ensembl	human	known	69_37n	missense	39	43.48	30	SNP	1.000	A
MEIS2	4212	genome.wustl.edu	37	15	37184562	37184562	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr15:37184562G>A	ENST00000561208.1	-	12	1664	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.P409S|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.P409S|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000557796.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	416	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AATTGAGTAGGGTGTGGGGTC	0.552																																						dbGAP											0													231.0	233.0	232.0					15																	37184562		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1246C>T	15.37:g.37184562G>A	ENSP00000453793:p.Pro416Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P416S	ENST00000561208.1	37	c.1246	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770512	0.15983	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87179	-2.22;-2.22	5.87	4.95	0.65309	.	0.067304	0.64402	D	0.000013	T	0.76190	0.3953	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.26935	0.003;0.002;0.001;0.164	B;B;B;B	0.25506	0.003;0.004;0.001;0.061	T	0.71705	-0.4512	10	0.34782	T	0.22	0.0631	9.826	0.40912	0.0692:0.0:0.7901:0.1407	.	409;416;396;112	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	S	416;409;409	ENSP00000341400:P409S;ENSP00000372216:P409S	ENSP00000326296:P416S	P	-	1	0	MEIS2	34971854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.771000	0.68881	1.456000	0.47831	0.655000	0.94253	CCT	MEIS2	-	NULL	ENSG00000134138		0.552	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	415	0.00	0	G	NM_170677		37184562	37184562	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	264	17.24	55	SNP	1.000	A
MEIS2	4212	genome.wustl.edu	37	15	37184562	37184562	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr15:37184562G>A	ENST00000561208.1	-	12	1664	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.P409S|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.P409S|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000557796.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	416	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AATTGAGTAGGGTGTGGGGTC	0.552																																						dbGAP											0													231.0	233.0	232.0					15																	37184562		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1246C>T	15.37:g.37184562G>A	ENSP00000453793:p.Pro416Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P416S	ENST00000561208.1	37	c.1246	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770512	0.15983	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87179	-2.22;-2.22	5.87	4.95	0.65309	.	0.067304	0.64402	D	0.000013	T	0.76190	0.3953	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.26935	0.003;0.002;0.001;0.164	B;B;B;B	0.25506	0.003;0.004;0.001;0.061	T	0.71705	-0.4512	10	0.34782	T	0.22	0.0631	9.826	0.40912	0.0692:0.0:0.7901:0.1407	.	409;416;396;112	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	S	416;409;409	ENSP00000341400:P409S;ENSP00000372216:P409S	ENSP00000326296:P416S	P	-	1	0	MEIS2	34971854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.771000	0.68881	1.456000	0.47831	0.655000	0.94253	CCT	MEIS2	-	NULL	ENSG00000134138		0.552	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	358	0.00	0	G	NM_170677		37184562	37184562	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	264	17.24	55	SNP	1.000	A
OGT	8473	genome.wustl.edu	37	X	70767782	70767782	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chrX:70767782C>T	ENST00000373719.3	+	5	774	c.557C>T	c.(556-558)aCg>aTg	p.T186M	OGT_ENST00000373701.3_Missense_Mutation_p.T176M	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	186					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCAATTGAGACGCAACCGAAC	0.403													c|||	1	0.000264901	0.0	0.0	3775	,	,		13907	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													141.0	131.0	135.0					X																	70767782		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.557C>T	X.37:g.70767782C>T	ENSP00000362824:p.Thr186Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T186M	ENST00000373719.3	37	c.557	CCDS14414.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.8|21.8	4.208851|4.208851	0.79240|0.79240	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.59083	.|0.29;0.29	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57607|0.57607	0.2065|0.2065	N|N	0.04018|0.04018	-0.295|-0.295	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.925;0.996	T|T	0.68891|0.68891	-0.5289|-0.5289	5|10	.|0.52906	.|T	.|0.07	-34.793|-34.793	17.6233|17.6233	0.88088|0.88088	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;176;186	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	C|M	146|186;176	.|ENSP00000362824:T186M;ENSP00000362805:T176M	.|ENSP00000362805:T176M	R|T	+|+	1|2	0|0	OGT|OGT	70684507|70684507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.647000|7.647000	0.83462|0.83462	2.348000|2.348000	0.79779|0.79779	0.591000|0.591000	0.81541|0.81541	CGC|ACG	OGT	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147162		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	327	0.00	0	C	NM_003605, NM_181672		70767782	70767782	+1	no_errors	ENST00000373719	ensembl	human	known	69_37n	missense	194	38.22	120	SNP	1.000	T
OGT	8473	genome.wustl.edu	37	X	70767782	70767782	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chrX:70767782C>T	ENST00000373719.3	+	5	774	c.557C>T	c.(556-558)aCg>aTg	p.T186M	OGT_ENST00000373701.3_Missense_Mutation_p.T176M	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	186					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCAATTGAGACGCAACCGAAC	0.403													c|||	1	0.000264901	0.0	0.0	3775	,	,		13907	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													141.0	131.0	135.0					X																	70767782		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.557C>T	X.37:g.70767782C>T	ENSP00000362824:p.Thr186Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T186M	ENST00000373719.3	37	c.557	CCDS14414.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.8|21.8	4.208851|4.208851	0.79240|0.79240	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.59083	.|0.29;0.29	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57607|0.57607	0.2065|0.2065	N|N	0.04018|0.04018	-0.295|-0.295	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.925;0.996	T|T	0.68891|0.68891	-0.5289|-0.5289	5|10	.|0.52906	.|T	.|0.07	-34.793|-34.793	17.6233|17.6233	0.88088|0.88088	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|60;176;186	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	C|M	146|186;176	.|ENSP00000362824:T186M;ENSP00000362805:T176M	.|ENSP00000362805:T176M	R|T	+|+	1|2	0|0	OGT|OGT	70684507|70684507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.647000|7.647000	0.83462|0.83462	2.348000|2.348000	0.79779|0.79779	0.591000|0.591000	0.81541|0.81541	CGC|ACG	OGT	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147162		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	226	0.00	0	C	NM_003605, NM_181672		70767782	70767782	+1	no_errors	ENST00000373719	ensembl	human	known	69_37n	missense	194	38.22	120	SNP	1.000	T
OR2T2	401992	genome.wustl.edu	37	1	248616883	248616883	+	Missense_Mutation	SNP	T	T	A	rs143551105	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:248616883T>A	ENST00000342927.3	+	1	807	c.785T>A	c.(784-786)cTg>cAg	p.L262Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCAACGTGCTGCCCCACTCC	0.537																																						dbGAP											0													21.0	19.0	20.0					1																	248616883		2179	4264	6443	-	-	-	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.785T>A	1.37:g.248616883T>A	ENSP00000343062:p.Leu262Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L262Q	ENST00000342927.3	37	c.785	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	t	9.878	1.200859	0.22121	.	.	ENSG00000196240	ENST00000342927	T	0.37584	1.19	3.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003307	T	0.28962	0.0719	N	0.04260	-0.245	0.19300	N	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.06092	-1.0846	10	0.30078	T	0.28	.	5.2576	0.15555	0.1723:0.0:0.1769:0.6508	.	262	Q6IF00	OR2T2_HUMAN	Q	262	ENSP00000343062:L262Q	ENSP00000343062:L262Q	L	+	2	0	OR2T2	246683506	0.000000	0.05858	0.864000	0.33941	0.263000	0.26337	0.284000	0.18864	1.431000	0.47355	0.374000	0.22700	CTG	OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196240		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	71	0.00	0	T	NM_001004136		248616883	248616883	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.339	A
PCDHA8	56140	genome.wustl.edu	37	5	140222893	140222893	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr5:140222893G>A	ENST00000531613.1	+	1	1987	c.1987G>A	c.(1987-1989)Gcc>Acc	p.A663T	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A663T	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGCCACGGCCACGGTTCT	0.647																																						dbGAP											0													78.0	77.0	77.0					5																	140222893		2196	4266	6462	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1987G>A	5.37:g.140222893G>A	ENSP00000434655:p.Ala663Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A663T	ENST00000531613.1	37	c.1987	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297217	0.40694	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.36482	U	0.002575	T	0.48502	0.1503	L	0.56769	1.78	0.80722	D	1	P;D	0.54772	0.932;0.968	P;P	0.49477	0.612;0.596	T	0.52764	-0.8532	10	0.72032	D	0.01	.	8.4303	0.32753	0.1121:0.0:0.8879:0.0	.	663;663	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	663	ENSP00000434655:A663T;ENSP00000367363:A663T	ENSP00000367363:A663T	A	+	1	0	PCDHA8	140203077	0.892000	0.30473	0.973000	0.42090	0.033000	0.12548	5.678000	0.68153	1.624000	0.50355	0.313000	0.20887	GCC	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	111	0.00	0	G	NM_018911		140222893	140222893	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	A
PCDHA8	56140	genome.wustl.edu	37	5	140222893	140222893	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr5:140222893G>A	ENST00000531613.1	+	1	1987	c.1987G>A	c.(1987-1989)Gcc>Acc	p.A663T	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A663T	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGCCACGGCCACGGTTCT	0.647																																						dbGAP											0													78.0	77.0	77.0					5																	140222893		2196	4266	6462	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1987G>A	5.37:g.140222893G>A	ENSP00000434655:p.Ala663Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A663T	ENST00000531613.1	37	c.1987	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297217	0.40694	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	2.93	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.36482	U	0.002575	T	0.48502	0.1503	L	0.56769	1.78	0.80722	D	1	P;D	0.54772	0.932;0.968	P;P	0.49477	0.612;0.596	T	0.52764	-0.8532	10	0.72032	D	0.01	.	8.4303	0.32753	0.1121:0.0:0.8879:0.0	.	663;663	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	663	ENSP00000434655:A663T;ENSP00000367363:A663T	ENSP00000367363:A663T	A	+	1	0	PCDHA8	140203077	0.892000	0.30473	0.973000	0.42090	0.033000	0.12548	5.678000	0.68153	1.624000	0.50355	0.313000	0.20887	GCC	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.647	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	42	0.00	0	G	NM_018911		140222893	140222893	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	A
PCDHB18	54660	genome.wustl.edu	37	5	140616046	140616046	+	RNA	DEL	G	G	-	rs553515791	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr5:140616046delG	ENST00000526308.1	+	0	2109					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCACAGGCTGGTGGTGCTGG	0.701																																						dbGAP											0																																										-	-	-			0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616046delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTF8	RNA	DEL	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.701	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	66	0.00	0	G			140616046	140616046	+1	no_errors	ENST00000526308	ensembl	human	known	69_37n	rna	25	34.21	13	DEL	0.088	-
PCDHB18	54660	genome.wustl.edu	37	5	140616046	140616046	+	RNA	DEL	G	G	-	rs553515791	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr5:140616046delG	ENST00000526308.1	+	0	2109					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCACAGGCTGGTGGTGCTGG	0.701																																						dbGAP											0																																										-	-	-			0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616046delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTF8	RNA	DEL	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-	ENSG00000146001		0.701	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	31	0.00	0	G			140616046	140616046	+1	no_errors	ENST00000526308	ensembl	human	known	69_37n	rna	25	34.21	13	DEL	0.088	-
PDE4DIP	9659	genome.wustl.edu	37	1	144904729	144904729	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:144904729C>T	ENST00000369354.3	-	20	2772	c.2583G>A	c.(2581-2583)ctG>ctA	p.L861L	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Silent_p.L861L|PDE4DIP_ENST00000369349.3_Silent_p.L861L|PDE4DIP_ENST00000369359.4_Silent_p.L998L|PDE4DIP_ENST00000530740.1_Silent_p.L998L|PDE4DIP_ENST00000313382.9_Silent_p.L927L|PDE4DIP_ENST00000313431.9_Silent_p.L1024L|PDE4DIP_ENST00000479408.2_Silent_p.L648L|PDE4DIP_ENST00000529945.1_Silent_p.L1024L|PDE4DIP_ENST00000369351.3_Silent_p.L861L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	861					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTAGCATCAGCAGCAACT	0.443			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													151.0	151.0	151.0					1																	144904729		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2583G>A	1.37:g.144904729C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L861	ENST00000369354.3	37	c.2583	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	548	0.00	0	C	NM_022359		144904729	144904729	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	silent	381	23.60	118	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144904729	144904729	+	Silent	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:144904729C>T	ENST00000369354.3	-	20	2772	c.2583G>A	c.(2581-2583)ctG>ctA	p.L861L	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Silent_p.L861L|PDE4DIP_ENST00000369349.3_Silent_p.L861L|PDE4DIP_ENST00000369359.4_Silent_p.L998L|PDE4DIP_ENST00000530740.1_Silent_p.L998L|PDE4DIP_ENST00000313382.9_Silent_p.L927L|PDE4DIP_ENST00000313431.9_Silent_p.L1024L|PDE4DIP_ENST00000479408.2_Silent_p.L648L|PDE4DIP_ENST00000529945.1_Silent_p.L1024L|PDE4DIP_ENST00000369351.3_Silent_p.L861L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	861					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTAGCATCAGCAGCAACT	0.443			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													151.0	151.0	151.0					1																	144904729		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2583G>A	1.37:g.144904729C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L861	ENST00000369354.3	37	c.2583	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	347	0.00	0	C	NM_022359		144904729	144904729	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	silent	381	23.60	118	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32088295	32088295	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr5:32088295C>T	ENST00000438447.1	+	20	5129	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1581C			O15018	PDZD2_HUMAN	PDZ domain containing 2	1581					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCCTCCTCGTTCCCGTGT	0.552																																						dbGAP											0													79.0	81.0	80.0					5																	32088295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4741C>T	5.37:g.32088295C>T	ENSP00000402033:p.Arg1581Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1581C	ENST00000438447.1	37	c.4741	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719025	0.68844	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.31769	1.48;1.48	5.36	3.57	0.40892	.	2.002380	0.01973	N	0.044231	T	0.34164	0.0888	L	0.47716	1.5	0.27389	N	0.955204	D	0.61697	0.99	B	0.43575	0.424	T	0.25328	-1.0135	10	0.46703	T	0.11	.	9.1912	0.37200	0.0:0.7725:0.1467:0.0808	.	1581	O15018	PDZD2_HUMAN	C	1581;1382;1581	ENSP00000402033:R1581C;ENSP00000282493:R1581C	ENSP00000282493:R1581C	R	+	1	0	PDZD2	32124052	0.000000	0.05858	0.866000	0.34008	0.292000	0.27327	0.087000	0.14958	0.645000	0.30675	-0.119000	0.15052	CGT	PDZD2	-	NULL	ENSG00000133401		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	135	0.74	1	C			32088295	32088295	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	95	14.41	16	SNP	0.808	T
PDZD2	23037	genome.wustl.edu	37	5	32088295	32088295	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr5:32088295C>T	ENST00000438447.1	+	20	5129	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1581C			O15018	PDZD2_HUMAN	PDZ domain containing 2	1581					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCCTCCTCGTTCCCGTGT	0.552																																						dbGAP											0													79.0	81.0	80.0					5																	32088295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4741C>T	5.37:g.32088295C>T	ENSP00000402033:p.Arg1581Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1581C	ENST00000438447.1	37	c.4741	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719025	0.68844	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.31769	1.48;1.48	5.36	3.57	0.40892	.	2.002380	0.01973	N	0.044231	T	0.34164	0.0888	L	0.47716	1.5	0.27389	N	0.955204	D	0.61697	0.99	B	0.43575	0.424	T	0.25328	-1.0135	10	0.46703	T	0.11	.	9.1912	0.37200	0.0:0.7725:0.1467:0.0808	.	1581	O15018	PDZD2_HUMAN	C	1581;1382;1581	ENSP00000402033:R1581C;ENSP00000282493:R1581C	ENSP00000282493:R1581C	R	+	1	0	PDZD2	32124052	0.000000	0.05858	0.866000	0.34008	0.292000	0.27327	0.087000	0.14958	0.645000	0.30675	-0.119000	0.15052	CGT	PDZD2	-	NULL	ENSG00000133401		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	123	0.00	0	C			32088295	32088295	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	95	14.41	16	SNP	0.808	T
PILRB	29990	genome.wustl.edu	37	7	99956647	99956647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr7:99956647delA	ENST00000452089.1	+	7	1458	c.399delA	c.(397-399)agafs	p.R133fs	PILRB_ENST00000610247.1_Frame_Shift_Del_p.R133fs|PILRB_ENST00000448382.1_Frame_Shift_Del_p.I186fs|PILRB_ENST00000444073.1_Frame_Shift_Del_p.R133fs|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Frame_Shift_Del_p.R133fs			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	133	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACACCCGGAGATCAGGGAGGC	0.602																																						dbGAP											0													75.0	76.0	76.0					7																	99956647		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.399delA	7.37:g.99956647delA	ENSP00000391748:p.Arg133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YF9|Q9HBS0	Frame_Shift_Del	DEL	NULL	p.I186fs	ENST00000452089.1	37	c.556	CCDS43622.1	7																																																																																			PILRB	-	NULL	ENSG00000121716		0.602	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	134	0.00	0	A	NM_178238		99956647	99956647	+1	no_errors	ENST00000448382	ensembl	human	known	69_37n	frame_shift_del	59	34.44	31	DEL	0.000	-
PILRB	29990	genome.wustl.edu	37	7	99956647	99956647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr7:99956647delA	ENST00000452089.1	+	7	1458	c.399delA	c.(397-399)agafs	p.R133fs	PILRB_ENST00000610247.1_Frame_Shift_Del_p.R133fs|PILRB_ENST00000448382.1_Frame_Shift_Del_p.I186fs|PILRB_ENST00000444073.1_Frame_Shift_Del_p.R133fs|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Frame_Shift_Del_p.R133fs			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	133	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACACCCGGAGATCAGGGAGGC	0.602																																						dbGAP											0													75.0	76.0	76.0					7																	99956647		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.399delA	7.37:g.99956647delA	ENSP00000391748:p.Arg133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YF9|Q9HBS0	Frame_Shift_Del	DEL	NULL	p.I186fs	ENST00000452089.1	37	c.556	CCDS43622.1	7																																																																																			PILRB	-	NULL	ENSG00000121716		0.602	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	79	0.00	0	A	NM_178238		99956647	99956647	+1	no_errors	ENST00000448382	ensembl	human	known	69_37n	frame_shift_del	59	34.44	31	DEL	0.000	-
PIWIL1	9271	genome.wustl.edu	37	12	130833872	130833872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr12:130833872C>T	ENST00000245255.3	+	8	1095	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	275					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAAGTCCTTCGAAGTGAGAC	0.393																																						dbGAP											0													117.0	107.0	110.0					12																	130833872		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.823C>T	12.37:g.130833872C>T	ENSP00000245255:p.Arg275*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R275*	ENST00000245255.3	37	c.823	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.672227	0.97751	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.85	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9613	8.3272	0.32165	0.2763:0.6531:0.0:0.0705	.	.	.	.	X	275	.	ENSP00000245255:R275X	R	+	1	2	PIWIL1	129399825	1.000000	0.71417	0.206000	0.23566	0.829000	0.46940	4.800000	0.62524	0.799000	0.34018	0.655000	0.94253	CGA	PIWIL1	-	superfamily_PAZ	ENSG00000125207		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	96	0.00	0	C			130833872	130833872	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	nonsense	60	13.04	9	SNP	0.975	T
PIWIL1	9271	genome.wustl.edu	37	12	130833872	130833872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr12:130833872C>T	ENST00000245255.3	+	8	1095	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	275					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAAGTCCTTCGAAGTGAGAC	0.393																																						dbGAP											0													117.0	107.0	110.0					12																	130833872		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.823C>T	12.37:g.130833872C>T	ENSP00000245255:p.Arg275*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R275*	ENST00000245255.3	37	c.823	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.672227	0.97751	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.85	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9613	8.3272	0.32165	0.2763:0.6531:0.0:0.0705	.	.	.	.	X	275	.	ENSP00000245255:R275X	R	+	1	2	PIWIL1	129399825	1.000000	0.71417	0.206000	0.23566	0.829000	0.46940	4.800000	0.62524	0.799000	0.34018	0.655000	0.94253	CGA	PIWIL1	-	superfamily_PAZ	ENSG00000125207		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	68	0.00	0	C			130833872	130833872	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	nonsense	60	13.04	9	SNP	0.975	T
POGK	57645	genome.wustl.edu	37	1	166819226	166819226	+	Silent	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:166819226G>A	ENST00000367875.1	+	5	1770	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	POGK_ENST00000536514.1_Silent_p.L385L|POGK_ENST00000367876.4_Silent_p.L470L|POGK_ENST00000537173.1_Silent_p.L352L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	470	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TGCTGATCTTGAATGGCTTCC	0.552																																					GBM(76;192 1530 30153 48742)	dbGAP											0													110.0	100.0	104.0					1																	166819226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1410G>A	1.37:g.166819226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L470	ENST00000367875.1	37	c.1410	CCDS1254.1	1																																																																																			POGK	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000143157		0.552	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	80	0.00	0	G	NM_017542		166819226	166819226	+1	no_errors	ENST00000367875	ensembl	human	known	69_37n	silent	35	53.95	41	SNP	0.220	A
POGK	57645	genome.wustl.edu	37	1	166819226	166819226	+	Silent	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:166819226G>A	ENST00000367875.1	+	5	1770	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	POGK_ENST00000536514.1_Silent_p.L385L|POGK_ENST00000367876.4_Silent_p.L470L|POGK_ENST00000537173.1_Silent_p.L352L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	470	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TGCTGATCTTGAATGGCTTCC	0.552																																					GBM(76;192 1530 30153 48742)	dbGAP											0													110.0	100.0	104.0					1																	166819226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1410G>A	1.37:g.166819226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L470	ENST00000367875.1	37	c.1410	CCDS1254.1	1																																																																																			POGK	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000143157		0.552	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	81	0.00	0	G	NM_017542		166819226	166819226	+1	no_errors	ENST00000367875	ensembl	human	known	69_37n	silent	35	53.95	41	SNP	0.220	A
POLQ	10721	genome.wustl.edu	37	3	121207015	121207015	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr3:121207015G>A	ENST00000264233.5	-	16	4891	c.4763C>T	c.(4762-4764)cCt>cTt	p.P1588L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAATGCTCTAGGAGATACTAC	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													148.0	143.0	145.0					3																	121207015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4763C>T	3.37:g.121207015G>A	ENSP00000264233:p.Pro1588Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1588L	ENST00000264233.5	37	c.4763	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.660464	0.00107	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	6.17	1.21	0.21127	.	0.873077	0.09966	N	0.732800	T	0.15955	0.0384	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	10	0.30078	T	0.28	.	3.7532	0.08575	0.5146:0.0:0.2206:0.2648	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	L	1211;1588;1724	ENSP00000264233:P1588L	ENSP00000264233:P1588L	P	-	2	0	POLQ	122689705	0.071000	0.21146	0.003000	0.11579	0.012000	0.07955	1.149000	0.31626	0.183000	0.20059	-0.302000	0.09304	CCT	POLQ	-	NULL	ENSG00000051341		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	324	0.00	0	G	NM_199420		121207015	121207015	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	276	15.60	51	SNP	0.001	A
POLQ	10721	genome.wustl.edu	37	3	121207015	121207015	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr3:121207015G>A	ENST00000264233.5	-	16	4891	c.4763C>T	c.(4762-4764)cCt>cTt	p.P1588L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAATGCTCTAGGAGATACTAC	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													148.0	143.0	145.0					3																	121207015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4763C>T	3.37:g.121207015G>A	ENSP00000264233:p.Pro1588Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1588L	ENST00000264233.5	37	c.4763	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.660464	0.00107	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	6.17	1.21	0.21127	.	0.873077	0.09966	N	0.732800	T	0.15955	0.0384	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	10	0.30078	T	0.28	.	3.7532	0.08575	0.5146:0.0:0.2206:0.2648	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	L	1211;1588;1724	ENSP00000264233:P1588L	ENSP00000264233:P1588L	P	-	2	0	POLQ	122689705	0.071000	0.21146	0.003000	0.11579	0.012000	0.07955	1.149000	0.31626	0.183000	0.20059	-0.302000	0.09304	CCT	POLQ	-	NULL	ENSG00000051341		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	419	0.00	0	G	NM_199420		121207015	121207015	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	276	15.60	51	SNP	0.001	A
PPP3CB	5532	genome.wustl.edu	37	10	75204476	75204476	+	Intron	SNP	T	T	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr10:75204476T>A	ENST00000360663.5	-	12	1478				PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D458V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476V|PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme						axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTGCATAACATCATTACCACT	0.488																																						dbGAP											0													177.0	112.0	134.0					10																	75204476		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1366+6A>T	10.37:g.75204476T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D476V	ENST00000360663.5	37	c.1427	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897458	0.33535	.	.	ENSG00000107758	ENST00000342558;ENST00000545874;ENST00000394822	T;T;T	0.19250	2.17;2.16;2.17	5.96	5.96	0.96718	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.45648	D	0.998575	B;B	0.32829	0.386;0.058	B;B	0.34242	0.178;0.027	T	0.03060	-1.1077	8	0.27785	T	0.31	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	476;373	P16298-2;F5H0F8	.;.	V	458;373;476	ENSP00000343147:D458V;ENSP00000439876:D373V;ENSP00000378299:D476V	ENSP00000343147:D458V	D	-	2	0	PPP3CB	74874482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.505000	0.66981	2.285000	0.76669	0.533000	0.62120	GAT	PPP3CB	-	NULL	ENSG00000107758		0.488	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	71	0.00	0	T	NM_021132		75204476	75204476	-1	no_errors	ENST00000394822	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	1.000	A
PPP3CB	5532	genome.wustl.edu	37	10	75204476	75204476	+	Intron	SNP	T	T	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr10:75204476T>A	ENST00000360663.5	-	12	1478				PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D458V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476V|PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme						axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TTGCATAACATCATTACCACT	0.488																																						dbGAP											0													177.0	112.0	134.0					10																	75204476		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1366+6A>T	10.37:g.75204476T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D476V	ENST00000360663.5	37	c.1427	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897458	0.33535	.	.	ENSG00000107758	ENST00000342558;ENST00000545874;ENST00000394822	T;T;T	0.19250	2.17;2.16;2.17	5.96	5.96	0.96718	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.45648	D	0.998575	B;B	0.32829	0.386;0.058	B;B	0.34242	0.178;0.027	T	0.03060	-1.1077	8	0.27785	T	0.31	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	476;373	P16298-2;F5H0F8	.;.	V	458;373;476	ENSP00000343147:D458V;ENSP00000439876:D373V;ENSP00000378299:D476V	ENSP00000343147:D458V	D	-	2	0	PPP3CB	74874482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.505000	0.66981	2.285000	0.76669	0.533000	0.62120	GAT	PPP3CB	-	NULL	ENSG00000107758		0.488	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	52	0.00	0	T	NM_021132		75204476	75204476	-1	no_errors	ENST00000394822	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	1.000	A
PROSER1	80209	genome.wustl.edu	37	13	39587641	39587641	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr13:39587641C>A	ENST00000352251.3	-	11	2581	c.1748G>T	c.(1747-1749)cGt>cTt	p.R583L	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.R561L	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	583	Ser-rich.																GTGGGGGCCACGCAAAAGGGA	0.537																																						dbGAP											0													95.0	101.0	99.0					13																	39587641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1748G>T	13.37:g.39587641C>A	ENSP00000332034:p.Arg583Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.R561L	ENST00000352251.3	37	c.1682	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	6.323	0.427761	0.11987	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.30714	1.52;1.52	5.05	1.3	0.21679	.	.	.	.	.	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.32903	-0.9889	8	.	.	.	-1.0602	4.8829	0.13688	0.0:0.2357:0.1474:0.6169	.	561;583	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	583;561	ENSP00000332034:R583L;ENSP00000339123:R561L	.	R	-	2	0	PROSER1	38485641	0.975000	0.34042	0.000000	0.03702	0.321000	0.28281	1.691000	0.37721	0.084000	0.17077	-0.415000	0.06103	CGT	PROSER1	-	NULL	ENSG00000120685		0.537	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	220	0.45	1	C	NM_025138		39587641	39587641	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	0.001	A
PROSER1	80209	genome.wustl.edu	37	13	39587641	39587641	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr13:39587641C>A	ENST00000352251.3	-	11	2581	c.1748G>T	c.(1747-1749)cGt>cTt	p.R583L	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.R561L	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	583	Ser-rich.																GTGGGGGCCACGCAAAAGGGA	0.537																																						dbGAP											0													95.0	101.0	99.0					13																	39587641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1748G>T	13.37:g.39587641C>A	ENSP00000332034:p.Arg583Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.R561L	ENST00000352251.3	37	c.1682	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	6.323	0.427761	0.11987	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.30714	1.52;1.52	5.05	1.3	0.21679	.	.	.	.	.	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.32903	-0.9889	8	.	.	.	-1.0602	4.8829	0.13688	0.0:0.2357:0.1474:0.6169	.	561;583	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	583;561	ENSP00000332034:R583L;ENSP00000339123:R561L	.	R	-	2	0	PROSER1	38485641	0.975000	0.34042	0.000000	0.03702	0.321000	0.28281	1.691000	0.37721	0.084000	0.17077	-0.415000	0.06103	CGT	PROSER1	-	NULL	ENSG00000120685		0.537	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	237	0.00	0	C	NM_025138		39587641	39587641	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	0.001	A
PTHLH	5744	genome.wustl.edu	37	12	28114898	28114898	+	Intron	DEL	T	T	-	rs377014358		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr12:28114898delT	ENST00000545234.1	-	5	1065				PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000539239.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000538310.1_Frame_Shift_Del_p.K186fs			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTGTTTTCCTTTTTTTTTTT	0.333																																						dbGAP											0													16.0	16.0	16.0					12																	28114898		875	1991	2866	-	-	-	SO:0001627	intron_variant	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382A>-	12.37:g.28114898delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15251|Q6FH74	Frame_Shift_Del	DEL	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.K186fs	ENST00000545234.1	37	c.557	CCDS44853.1	12																																																																																			PTHLH	-	NULL	ENSG00000087494		0.333	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	35	0.00	0	T	NM_198965		28114898	28114898	-1	no_errors	ENST00000354417	ensembl	human	known	69_37n	frame_shift_del	32	10.81	4	DEL	0.135	-
PTPRD	5789	genome.wustl.edu	37	9	8341726	8341727	+	Missense_Mutation	DNP	TC	TC	GG	rs369304072		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr9:8341726_8341727TC>GG	ENST00000381196.4	-	37	5456_5457	c.4913_4914GA>CC	c.(4912-4914)gGA>gCC	p.G1638A	PTPRD_ENST00000540109.1_Missense_Mutation_p.G1638A|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1638A|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1231A|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1228A|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1228A|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1625A|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1616A|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1231A|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1232A|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1231A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1638					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACATTCTCTCCCGTTTCTAT	0.436										TSP Lung(15;0.13)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4913_4914delinsGG	9.37:g.8341726_8341727delinsGG	ENSP00000370593:p.Gly1638Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent|Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G1638|p.G1638A	ENST00000381196.4	37	c.4914|c.4913	CCDS43786.1	9																																																																																			PTPRD	-	NULL	ENSG00000153707		0.436	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	593|591	0.00|0.17	0|1	T|C			8341726|8341727	8341726|8341727	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	silent|missense	316|315	19.54|19.85	77|78	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8341726	8341727	+	Missense_Mutation	DNP	TC	TC	GG	rs369304072		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr9:8341726_8341727TC>GG	ENST00000381196.4	-	37	5456_5457	c.4913_4914GA>CC	c.(4912-4914)gGA>gCC	p.G1638A	PTPRD_ENST00000540109.1_Missense_Mutation_p.G1638A|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1638A|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1231A|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1228A|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1228A|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1625A|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1616A|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1231A|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1232A|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1231A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1638					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACATTCTCTCCCGTTTCTAT	0.436										TSP Lung(15;0.13)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4913_4914delinsGG	9.37:g.8341726_8341727delinsGG	ENSP00000370593:p.Gly1638Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent|Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G1638|p.G1638A	ENST00000381196.4	37	c.4914|c.4913	CCDS43786.1	9																																																																																			PTPRD	-	NULL	ENSG00000153707		0.436	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	403|401	0.00	0	T|C			8341726|8341727	8341726|8341727	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	silent|missense	316|315	19.54|19.85	77|78	SNP	1.000	G
RPS6KA1	6195	genome.wustl.edu	37	1	26885381	26885381	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:26885381G>A	ENST00000374168.2	+	14	1322	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.D374N|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.D379N|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.D298N|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.D399N|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.D298N	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	390	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GATGGAAGACGACGGCAAGCC	0.637																																						dbGAP											0													41.0	42.0	42.0					1																	26885381		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1168G>A	1.37:g.26885381G>A	ENSP00000363283:p.Asp390Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D399N	ENST00000374168.2	37	c.1195	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433604	0.43224	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.69806	-0.42;-0.3;-0.43;-0.43;-0.42;-0.42;-0.13	6.08	6.08	0.98989	AGC-kinase, C-terminal (1);	0.190522	0.53938	D	0.000044	T	0.42040	0.1185	N	0.05078	-0.115	0.53688	D	0.999972	B;B;P	0.47302	0.001;0.001;0.893	B;B;B	0.35312	0.001;0.002;0.2	T	0.48258	-0.9051	10	0.33940	T	0.23	.	14.0662	0.64831	0.0711:0.0:0.9289:0.0	.	374;399;390	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	N	390;379;298;298;374;110;399;48	ENSP00000363283:D390N;ENSP00000363281:D379N;ENSP00000431651:D298N;ENSP00000363277:D298N;ENSP00000432281:D374N;ENSP00000435412:D399N;ENSP00000383967:D48N	ENSP00000363277:D298N	D	+	1	0	RPS6KA1	26757968	1.000000	0.71417	0.124000	0.21820	0.585000	0.36419	5.513000	0.67037	2.894000	0.99253	0.655000	0.94253	GAC	RPS6KA1	-	pirsf_Ribosomal_S6_kinase_II	ENSG00000117676		0.637	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	71	0.00	0	G	NM_002953		26885381	26885381	+1	no_errors	ENST00000531382	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.986	A
RPS6KA1	6195	genome.wustl.edu	37	1	26885381	26885381	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:26885381G>A	ENST00000374168.2	+	14	1322	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.D374N|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.D379N|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.D298N|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.D399N|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.D298N	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	390	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GATGGAAGACGACGGCAAGCC	0.637																																						dbGAP											0													41.0	42.0	42.0					1																	26885381		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1168G>A	1.37:g.26885381G>A	ENSP00000363283:p.Asp390Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D399N	ENST00000374168.2	37	c.1195	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433604	0.43224	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.69806	-0.42;-0.3;-0.43;-0.43;-0.42;-0.42;-0.13	6.08	6.08	0.98989	AGC-kinase, C-terminal (1);	0.190522	0.53938	D	0.000044	T	0.42040	0.1185	N	0.05078	-0.115	0.53688	D	0.999972	B;B;P	0.47302	0.001;0.001;0.893	B;B;B	0.35312	0.001;0.002;0.2	T	0.48258	-0.9051	10	0.33940	T	0.23	.	14.0662	0.64831	0.0711:0.0:0.9289:0.0	.	374;399;390	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	N	390;379;298;298;374;110;399;48	ENSP00000363283:D390N;ENSP00000363281:D379N;ENSP00000431651:D298N;ENSP00000363277:D298N;ENSP00000432281:D374N;ENSP00000435412:D399N;ENSP00000383967:D48N	ENSP00000363277:D298N	D	+	1	0	RPS6KA1	26757968	1.000000	0.71417	0.124000	0.21820	0.585000	0.36419	5.513000	0.67037	2.894000	0.99253	0.655000	0.94253	GAC	RPS6KA1	-	pirsf_Ribosomal_S6_kinase_II	ENSG00000117676		0.637	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	17	0.00	0	G	NM_002953		26885381	26885381	+1	no_errors	ENST00000531382	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	0.986	A
SH3PXD2A	9644	genome.wustl.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)cacfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGTGAGATGTGGGGGGGCAGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.329dupC	10.37:g.105484104_105484104dupG	ENSP00000358789:p.His110fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.H110fs	ENST00000369774.4	37	c.329_328		10																																																																																			SH3PXD2A	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000107957		0.535	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	15	0.00	0	-	NM_014631		105484097	105484098	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	frame_shift_ins	26	18.75	6	INS	1.000:0.989	G
SPP2	6694	genome.wustl.edu	37	2	234959496	234959496	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr2:234959496G>T	ENST00000168148.3	+	1	154	c.66G>T	c.(64-66)atG>atT	p.M22I	SPP2_ENST00000373368.1_Missense_Mutation_p.M22I|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	22					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CTCTTGGAATGAACTACTGGT	0.468																																						dbGAP											0													289.0	260.0	270.0					2																	234959496		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.66G>T	2.37:g.234959496G>T	ENSP00000168148:p.Met22Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.M22I	ENST00000168148.3	37	c.66	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	8.635	0.894589	0.17613	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.44482	0.92;0.92	5.27	2.44	0.29823	.	0.904780	0.09646	N	0.774274	T	0.32704	0.0838	L	0.44542	1.39	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.26883	-1.0090	10	0.41790	T	0.15	-3.2992	5.4932	0.16787	0.1804:0.1641:0.6555:0.0	.	22	Q13103	SPP24_HUMAN	I	22	ENSP00000362466:M22I;ENSP00000168148:M22I	ENSP00000168148:M22I	M	+	3	0	SPP2	234624235	0.006000	0.16342	0.000000	0.03702	0.052000	0.14988	1.611000	0.36879	0.211000	0.20683	0.650000	0.86243	ATG	SPP2	-	NULL	ENSG00000072080		0.468	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	384	0.26	1	G	NM_006944		234959496	234959496	+1	no_errors	ENST00000168148	ensembl	human	known	69_37n	missense	128	33.68	65	SNP	0.000	T
SPP2	6694	genome.wustl.edu	37	2	234959496	234959496	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr2:234959496G>T	ENST00000168148.3	+	1	154	c.66G>T	c.(64-66)atG>atT	p.M22I	SPP2_ENST00000373368.1_Missense_Mutation_p.M22I|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	22					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CTCTTGGAATGAACTACTGGT	0.468																																						dbGAP											0													289.0	260.0	270.0					2																	234959496		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.66G>T	2.37:g.234959496G>T	ENSP00000168148:p.Met22Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.M22I	ENST00000168148.3	37	c.66	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	8.635	0.894589	0.17613	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.44482	0.92;0.92	5.27	2.44	0.29823	.	0.904780	0.09646	N	0.774274	T	0.32704	0.0838	L	0.44542	1.39	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.26883	-1.0090	10	0.41790	T	0.15	-3.2992	5.4932	0.16787	0.1804:0.1641:0.6555:0.0	.	22	Q13103	SPP24_HUMAN	I	22	ENSP00000362466:M22I;ENSP00000168148:M22I	ENSP00000168148:M22I	M	+	3	0	SPP2	234624235	0.006000	0.16342	0.000000	0.03702	0.052000	0.14988	1.611000	0.36879	0.211000	0.20683	0.650000	0.86243	ATG	SPP2	-	NULL	ENSG00000072080		0.468	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	285	0.00	0	G	NM_006944		234959496	234959496	+1	no_errors	ENST00000168148	ensembl	human	known	69_37n	missense	128	33.68	65	SNP	0.000	T
SSH1	54434	genome.wustl.edu	37	12	109182866	109182867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr12:109182866_109182867delAG	ENST00000326495.5	-	15	2140_2141	c.2047_2048delCT	c.(2047-2049)ctafs	p.L683fs	SSH1_ENST00000360239.3_Frame_Shift_Del_p.L371fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	683					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTGGGGTAGGAAGGCTGGC	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2047_2048delCT	12.37:g.109182866_109182867delAG	ENSP00000315713:p.Leu683fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L683fs	ENST00000326495.5	37	c.2048_2047	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.658	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	48	0.00	0	AG	NM_018984		109182866	109182867	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	frame_shift_del	11	48.00	12	DEL	1.000:1.000	-
SSH1	54434	genome.wustl.edu	37	12	109182866	109182867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr12:109182866_109182867delAG	ENST00000326495.5	-	15	2140_2141	c.2047_2048delCT	c.(2047-2049)ctafs	p.L683fs	SSH1_ENST00000360239.3_Frame_Shift_Del_p.L371fs	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	683					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTGGGGTAGGAAGGCTGGC	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2047_2048delCT	12.37:g.109182866_109182867delAG	ENSP00000315713:p.Leu683fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L683fs	ENST00000326495.5	37	c.2048_2047	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.658	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	24	0.00	0	AG	NM_018984		109182866	109182867	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	frame_shift_del	11	48.00	12	DEL	1.000:1.000	-
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	50	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	57	14.93	10	SNP	0.994	A
TRADD	8717	genome.wustl.edu	37	16	67190457	67190458	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr16:67190457_67190458insG	ENST00000345057.4	-	2	574_575	c.106_107insC	c.(106-108)cagfs	p.Q36fs	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	36					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACCTTCTGCTGGGGGTGCGCG	0.629											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.107dupC	16.37:g.67190462_67190462dupG	ENSP00000341268:p.Gln36fs	Somatic	1097	WXS	Illumina GAIIx	Phase_IV	B2RDS3|B3KQZ9|Q52NZ1	Frame_Shift_Ins	INS	pfam_TRADD_N,pfam_Death,superfamily_TRADD_N,superfamily_DEATH-like,smart_Death,pfscan_Death	p.Q36fs	ENST00000345057.4	37	c.107_106	CCDS10829.1	16																																																																																			TRADD	-	superfamily_TRADD_N	ENSG00000102871		0.629	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRADD	HGNC	protein_coding	OTTHUMT00000268841.2	168	0.00	0	-			67190457	67190458	-1	no_errors	ENST00000345057	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.953:0.685	G
TRADD	8717	genome.wustl.edu	37	16	67190457	67190458	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr16:67190457_67190458insG	ENST00000345057.4	-	2	574_575	c.106_107insC	c.(106-108)cagfs	p.Q36fs	TRADD_ENST00000486556.1_5'Flank|TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	36					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACCTTCTGCTGGGGGTGCGCG	0.629											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.107dupC	16.37:g.67190462_67190462dupG	ENSP00000341268:p.Gln36fs	Somatic	1097	WXS	Illumina GAIIx	Phase_IV	B2RDS3|B3KQZ9|Q52NZ1	Frame_Shift_Ins	INS	pfam_TRADD_N,pfam_Death,superfamily_TRADD_N,superfamily_DEATH-like,smart_Death,pfscan_Death	p.Q36fs	ENST00000345057.4	37	c.107_106	CCDS10829.1	16																																																																																			TRADD	-	superfamily_TRADD_N	ENSG00000102871		0.629	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRADD	HGNC	protein_coding	OTTHUMT00000268841.2	32	0.00	0	-			67190457	67190458	-1	no_errors	ENST00000345057	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.953:0.685	G
TRIM24	8805	genome.wustl.edu	37	7	138189074	138189074	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr7:138189074C>G	ENST00000343526.4	+	2	619	c.404C>G	c.(403-405)gCa>gGa	p.A135G	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.A135G			O15164	TIF1A_HUMAN	tripartite motif containing 24	135					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAAGAATGTGCAGAGAGACAC	0.353																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													121.0	118.0	119.0					7																	138189074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.404C>G	7.37:g.138189074C>G	ENSP00000340507:p.Ala135Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A135G	ENST00000343526.4	37	c.404	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699686	0.68501	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.75821	-0.97;-0.96	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.119930	0.56097	D	0.000023	T	0.76435	0.3987	N	0.25332	0.735	0.41184	D	0.98625	B;D	0.59767	0.005;0.986	B;D	0.63703	0.002;0.917	T	0.70795	-0.4775	10	0.15499	T	0.54	-16.4335	18.4584	0.90729	0.0:1.0:0.0:0.0	.	135;135	O15164;O15164-2	TIF1A_HUMAN;.	G	135;135;46;135;93	ENSP00000340507:A135G;ENSP00000390829:A135G	ENSP00000340507:A135G	A	+	2	0	TRIM24	137839614	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.155000	0.31700	2.684000	0.91462	0.650000	0.86243	GCA	TRIM24	-	NULL	ENSG00000122779		0.353	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	250	0.00	0	C	NM_015905		138189074	138189074	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	257	23.51	79	SNP	1.000	G
TRIM24	8805	genome.wustl.edu	37	7	138189074	138189074	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr7:138189074C>G	ENST00000343526.4	+	2	619	c.404C>G	c.(403-405)gCa>gGa	p.A135G	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.A135G			O15164	TIF1A_HUMAN	tripartite motif containing 24	135					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAAGAATGTGCAGAGAGACAC	0.353																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													121.0	118.0	119.0					7																	138189074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.404C>G	7.37:g.138189074C>G	ENSP00000340507:p.Ala135Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A135G	ENST00000343526.4	37	c.404	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699686	0.68501	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.75821	-0.97;-0.96	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.119930	0.56097	D	0.000023	T	0.76435	0.3987	N	0.25332	0.735	0.41184	D	0.98625	B;D	0.59767	0.005;0.986	B;D	0.63703	0.002;0.917	T	0.70795	-0.4775	10	0.15499	T	0.54	-16.4335	18.4584	0.90729	0.0:1.0:0.0:0.0	.	135;135	O15164;O15164-2	TIF1A_HUMAN;.	G	135;135;46;135;93	ENSP00000340507:A135G;ENSP00000390829:A135G	ENSP00000340507:A135G	A	+	2	0	TRIM24	137839614	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.155000	0.31700	2.684000	0.91462	0.650000	0.86243	GCA	TRIM24	-	NULL	ENSG00000122779		0.353	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	324	0.00	0	C	NM_015905		138189074	138189074	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	257	23.51	79	SNP	1.000	G
VPS18	57617	genome.wustl.edu	37	15	41192326	41192326	+	Missense_Mutation	SNP	G	G	A	rs201397772		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr15:41192326G>A	ENST00000220509.5	+	4	1649	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	437					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTTCGCCAGCGTCGCTACCTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19288	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													63.0	67.0	66.0					15																	41192326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1310G>A	15.37:g.41192326G>A	ENSP00000220509:p.Arg437His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.R437H	ENST00000220509.5	37	c.1310	CCDS10069.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.99	1.507191	0.27036	.	.	ENSG00000104142	ENST00000220509	T	0.24538	1.85	5.06	2.09	0.27110	.	0.161401	0.52532	N	0.000076	T	0.21062	0.0507	L	0.46157	1.445	0.80722	D	1	B	0.15930	0.015	B	0.11329	0.006	T	0.04635	-1.0937	10	0.52906	T	0.07	-6.0692	8.5266	0.33309	0.4198:0.0:0.5802:0.0	.	437	Q9P253	VPS18_HUMAN	H	437	ENSP00000220509:R437H	ENSP00000220509:R437H	R	+	2	0	VPS18	38979618	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	2.033000	0.41136	0.234000	0.21139	0.561000	0.74099	CGT	VPS18	-	superfamily_ARM-type_fold	ENSG00000104142		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	83	0.00	0	G			41192326	41192326	+1	no_errors	ENST00000220509	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.968	A
VPS18	57617	genome.wustl.edu	37	15	41192326	41192326	+	Missense_Mutation	SNP	G	G	A	rs201397772		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr15:41192326G>A	ENST00000220509.5	+	4	1649	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	437					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTTCGCCAGCGTCGCTACCTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19288	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													63.0	67.0	66.0					15																	41192326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1310G>A	15.37:g.41192326G>A	ENSP00000220509:p.Arg437His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.R437H	ENST00000220509.5	37	c.1310	CCDS10069.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.99	1.507191	0.27036	.	.	ENSG00000104142	ENST00000220509	T	0.24538	1.85	5.06	2.09	0.27110	.	0.161401	0.52532	N	0.000076	T	0.21062	0.0507	L	0.46157	1.445	0.80722	D	1	B	0.15930	0.015	B	0.11329	0.006	T	0.04635	-1.0937	10	0.52906	T	0.07	-6.0692	8.5266	0.33309	0.4198:0.0:0.5802:0.0	.	437	Q9P253	VPS18_HUMAN	H	437	ENSP00000220509:R437H	ENSP00000220509:R437H	R	+	2	0	VPS18	38979618	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	2.033000	0.41136	0.234000	0.21139	0.561000	0.74099	CGT	VPS18	-	superfamily_ARM-type_fold	ENSG00000104142		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	48	0.00	0	G			41192326	41192326	+1	no_errors	ENST00000220509	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.968	A
WDYHV1	55093	genome.wustl.edu	37	8	124448694	124448694	+	Splice_Site	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr8:124448694A>T	ENST00000287387.2	+	4	361	c.236A>T	c.(235-237)gAt>gTt	p.D79V	WDYHV1_ENST00000523356.1_Splice_Site_p.D79V|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Splice_Site_p.D19V|WDYHV1_ENST00000518125.1_Intron	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	79					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TACTTTTAGGATTACCATGTT	0.363																																						dbGAP											0													159.0	132.0	141.0					8																	124448694		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.235-1A>T	8.37:g.124448694A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE68|Q9NW95	Missense_Mutation	SNP	pfam_Prot_N_Gln_amidohydro_ab_roll	p.D79V	ENST00000287387.2	37	c.236	CCDS6344.1	8	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023930	0.75390	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.41758	0.99;0.99;0.99	5.63	5.63	0.86233	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.049030	0.85682	D	0.000000	T	0.69433	0.3110	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.77710	-0.2486	10	0.87932	D	0	-23.5906	14.8183	0.70052	1.0:0.0:0.0:0.0	.	79	Q96HA8	NTAQ1_HUMAN	V	79;19;79	ENSP00000287387:D79V;ENSP00000430427:D19V;ENSP00000428615:D79V	ENSP00000287387:D79V	D	+	2	0	WDYHV1	124517875	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.119000	0.77145	2.136000	0.66102	0.533000	0.62120	GAT	WDYHV1	-	pfam_Prot_N_Gln_amidohydro_ab_roll	ENSG00000156795		0.363	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDYHV1	HGNC	protein_coding	OTTHUMT00000381772.1	153	0.00	0	A	NM_018024	Missense_Mutation	124448694	124448694	+1	no_errors	ENST00000287387	ensembl	human	known	69_37n	missense	131	10.27	15	SNP	1.000	T
WDYHV1	55093	genome.wustl.edu	37	8	124448694	124448694	+	Splice_Site	SNP	A	A	T			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr8:124448694A>T	ENST00000287387.2	+	4	361	c.236A>T	c.(235-237)gAt>gTt	p.D79V	WDYHV1_ENST00000523356.1_Splice_Site_p.D79V|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Splice_Site_p.D19V|WDYHV1_ENST00000518125.1_Intron	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	79					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TACTTTTAGGATTACCATGTT	0.363																																						dbGAP											0													159.0	132.0	141.0					8																	124448694		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.235-1A>T	8.37:g.124448694A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE68|Q9NW95	Missense_Mutation	SNP	pfam_Prot_N_Gln_amidohydro_ab_roll	p.D79V	ENST00000287387.2	37	c.236	CCDS6344.1	8	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023930	0.75390	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.41758	0.99;0.99;0.99	5.63	5.63	0.86233	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.049030	0.85682	D	0.000000	T	0.69433	0.3110	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.77710	-0.2486	10	0.87932	D	0	-23.5906	14.8183	0.70052	1.0:0.0:0.0:0.0	.	79	Q96HA8	NTAQ1_HUMAN	V	79;19;79	ENSP00000287387:D79V;ENSP00000430427:D19V;ENSP00000428615:D79V	ENSP00000287387:D79V	D	+	2	0	WDYHV1	124517875	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.119000	0.77145	2.136000	0.66102	0.533000	0.62120	GAT	WDYHV1	-	pfam_Prot_N_Gln_amidohydro_ab_roll	ENSG00000156795		0.363	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDYHV1	HGNC	protein_coding	OTTHUMT00000381772.1	69	0.00	0	A	NM_018024	Missense_Mutation	124448694	124448694	+1	no_errors	ENST00000287387	ensembl	human	known	69_37n	missense	131	10.27	15	SNP	1.000	T
WLS	79971	genome.wustl.edu	37	1	68624838	68624838	+	Missense_Mutation	SNP	G	G	C	rs373149051		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr1:68624838G>C	ENST00000262348.4	-	3	725	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.R67G|WLS_ENST00000354777.2_Missense_Mutation_p.R156G|WLS_ENST00000540432.1_Missense_Mutation_p.R158G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	158	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TTGAGTTTCCGTGGTACTCTT	0.463																																						dbGAP											0													182.0	147.0	159.0					1																	68624838		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.472C>G	1.37:g.68624838G>C	ENSP00000262348:p.Arg158Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.R158G	ENST00000262348.4	37	c.472	CCDS642.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.666448|2.666448	0.47677|0.47677	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000534713|ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000533537;ENST00000530486;ENST00000370973;ENST00000471243	.|T;T;T;T	.|0.63580	.|-0.05;0.16;0.04;0.05	5.94|5.94	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76126|0.76126	0.3944|0.3944	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;D;D	.|0.87578	.|0.988;0.88;0.998;0.988	T|T	0.81709|0.81709	-0.0809|-0.0809	5|10	.|0.87932	.|D	.|0	-9.4665|-9.4665	13.9978|13.9978	0.64414|0.64414	0.0:0.0:0.6101:0.3899|0.0:0.0:0.6101:0.3899	.|.	.|158;67;158;156	.|F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.|.;.;WLS_HUMAN;.	Q|G	60|158;156;158;67;25;113;25;113	.|ENSP00000446112:R158G;ENSP00000346829:R156G;ENSP00000262348:R158G;ENSP00000360015:R67G	.|ENSP00000262348:R158G	H|R	-|-	3|1	2|2	WLS|WLS	68397426|68397426	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.260000|0.260000	0.26232|0.26232	3.538000|3.538000	0.53597|0.53597	1.480000|1.480000	0.48289|0.48289	0.650000|0.650000	0.86243|0.86243	CAC|CGG	WLS	-	NULL	ENSG00000116729		0.463	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	152	0.00	0	G	NM_024911		68624838	68624838	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	89	19.82	22	SNP	0.915	C
WLS	79971	genome.wustl.edu	37	1	68624838	68624838	+	Missense_Mutation	SNP	G	G	C	rs373149051		TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr1:68624838G>C	ENST00000262348.4	-	3	725	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.R67G|WLS_ENST00000354777.2_Missense_Mutation_p.R156G|WLS_ENST00000540432.1_Missense_Mutation_p.R158G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	158	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TTGAGTTTCCGTGGTACTCTT	0.463																																						dbGAP											0													182.0	147.0	159.0					1																	68624838		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.472C>G	1.37:g.68624838G>C	ENSP00000262348:p.Arg158Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.R158G	ENST00000262348.4	37	c.472	CCDS642.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.666448|2.666448	0.47677|0.47677	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000534713|ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000533537;ENST00000530486;ENST00000370973;ENST00000471243	.|T;T;T;T	.|0.63580	.|-0.05;0.16;0.04;0.05	5.94|5.94	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76126|0.76126	0.3944|0.3944	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;D;D	.|0.87578	.|0.988;0.88;0.998;0.988	T|T	0.81709|0.81709	-0.0809|-0.0809	5|10	.|0.87932	.|D	.|0	-9.4665|-9.4665	13.9978|13.9978	0.64414|0.64414	0.0:0.0:0.6101:0.3899|0.0:0.0:0.6101:0.3899	.|.	.|158;67;158;156	.|F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.|.;.;WLS_HUMAN;.	Q|G	60|158;156;158;67;25;113;25;113	.|ENSP00000446112:R158G;ENSP00000346829:R156G;ENSP00000262348:R158G;ENSP00000360015:R67G	.|ENSP00000262348:R158G	H|R	-|-	3|1	2|2	WLS|WLS	68397426|68397426	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.260000|0.260000	0.26232|0.26232	3.538000|3.538000	0.53597|0.53597	1.480000|1.480000	0.48289|0.48289	0.650000|0.650000	0.86243|0.86243	CAC|CGG	WLS	-	NULL	ENSG00000116729		0.463	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	215	0.00	0	G	NM_024911		68624838	68624838	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	89	19.82	22	SNP	0.915	C
ZNF142	7701	genome.wustl.edu	37	2	219507935	219507935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	635d1b45-ef87-457e-9ea9-bd97f6ee70c0	g.chr2:219507935delC	ENST00000449707.1	-	8	3725	c.3304delG	c.(3304-3306)gctfs	p.A1102fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.A1102fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGAAGCGAGCCCCCTTCTGC	0.597																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											0													70.0	79.0	76.0					2																	219507935		1990	4161	6151	-	-	-	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3304delG	2.37:g.219507935delC	ENSP00000408643:p.Ala1102fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1102fs	ENST00000449707.1	37	c.3304	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.597	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	60	0.00	0	C	NM_005081		219507935	219507935	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	frame_shift_del	35	35.38	23	DEL	0.000	-
ZNF142	7701	genome.wustl.edu	37	2	219507935	219507935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr2:219507935delC	ENST00000449707.1	-	8	3725	c.3304delG	c.(3304-3306)gctfs	p.A1102fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.A1102fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGAAGCGAGCCCCCTTCTGC	0.597																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											0													70.0	79.0	76.0					2																	219507935		1990	4161	6151	-	-	-	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3304delG	2.37:g.219507935delC	ENSP00000408643:p.Ala1102fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1102fs	ENST00000449707.1	37	c.3304	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.597	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	64	0.00	0	C	NM_005081		219507935	219507935	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	frame_shift_del	35	35.38	23	DEL	0.000	-
ZNF296	162979	genome.wustl.edu	37	19	45575384	45575384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr19:45575384delT	ENST00000303809.2	-	3	1117	c.903delA	c.(901-903)gcafs	p.A302fs		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	302					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCGGAGGGGCTGCAGAGGCCT	0.711																																						dbGAP											0													24.0	32.0	29.0					19																	45575384		2185	4266	6451	-	-	-	SO:0001589	frameshift_variant	0			BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.903delA	19.37:g.45575384delT	ENSP00000302770:p.Ala302fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A302fs	ENST00000303809.2	37	c.903	CCDS12653.1	19																																																																																			ZNF296	-	NULL	ENSG00000170684		0.711	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF296	HGNC	protein_coding	OTTHUMT00000457529.1	14	0.00	0	T	NM_145288		45575384	45575384	-1	no_errors	ENST00000303809	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.000	-
ZNF296	162979	genome.wustl.edu	37	19	45575390	45575391	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BH-A0AY-01A-21W-A019-09	TCGA-BH-A0AY-11A-23W-A100-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	16ae1ccf-0a1e-4a67-9cbe-d0746ee68dac	b19708f5-7d3a-499f-90fd-3918aaff30c0	g.chr19:45575390_45575391delGG	ENST00000303809.2	-	3	1110_1111	c.896_897delCC	c.(895-897)gccfs	p.A299fs		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	299					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGGCTGCAGAGGCCTGCTCCTG	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.896_897delCC	19.37:g.45575390_45575391delGG	ENSP00000302770:p.Ala299fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A299fs	ENST00000303809.2	37	c.897_896	CCDS12653.1	19																																																																																			ZNF296	-	NULL	ENSG00000170684		0.708	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF296	HGNC	protein_coding	OTTHUMT00000457529.1	10	0.00	0	GG	NM_145288		45575390	45575391	-1	no_errors	ENST00000303809	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.350:0.773	-
