#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ATRX	546	genome.wustl.edu	37	X	76814318	76814318	+	Splice_Site	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:76814318C>T	ENST00000373344.5	-	29	6541		c.e29-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAATCGTCCTCTGAAAATGAA	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											36.0	35.0	35.0					X																	76814318		2188	4286	6474	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6327-1G>A	X.37:g.76814318C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	-	e29-1	ENST00000373344.5	37	c.6327-1	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176798	0.57692	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8291	0.88676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76700974	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.487000	0.81328	2.141000	0.66446	0.600000	0.82982	.	ATRX	-	-		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489	Intron	76814318	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76814318	76814318	+	Splice_Site	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:76814318C>T	ENST00000373344.5	-	29	6541		c.e29-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAATCGTCCTCTGAAAATGAA	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											36.0	35.0	35.0					X																	76814318		2188	4286	6474	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6327-1G>A	X.37:g.76814318C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	-	e29-1	ENST00000373344.5	37	c.6327-1	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176798	0.57692	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8291	0.88676	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76700974	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.487000	0.81328	2.141000	0.66446	0.600000	0.82982	.	ATRX	-	-		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489	Intron	76814318	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	splice_site	SNP	1.000	T
BAI1	575	genome.wustl.edu	37	8	143545680	143545680	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:143545680G>A	ENST00000517894.1	+	2	1015	c.121G>A	c.(121-123)Gag>Aag	p.E41K	BAI1_ENST00000323289.5_Missense_Mutation_p.E41K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	41					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					gcccgggcccgAGCCGTGCGC	0.751																																																	0													2.0	3.0	2.0					8																	143545680		1138	2499	3637	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.121G>A	8.37:g.143545680G>A	ENSP00000430945:p.Glu41Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.E41K	ENST00000517894.1	37	c.121		8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559298	0.27827	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.26373	1.74;1.74	3.96	3.07	0.35406	.	1.526790	0.04792	U	0.431931	T	0.19248	0.0462	L	0.40543	1.245	0.31125	N	0.708368	P	0.47545	0.897	B	0.30316	0.114	T	0.31861	-0.9928	10	0.49607	T	0.09	.	9.3568	0.38171	0.0:0.2192:0.7807:0.0	.	41	E9PBK0	.	K	41	ENSP00000430945:E41K;ENSP00000313046:E41K	ENSP00000313046:E41K	E	+	1	0	BAI1	143542682	0.726000	0.28059	0.049000	0.19019	0.167000	0.22549	3.458000	0.53014	0.850000	0.35239	-0.502000	0.04539	GAG	BAI1	-	NULL		0.751	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143545680	+1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	0.879	A
C10orf113	387638	genome.wustl.edu	37	10	21435341	21435344	+	Frame_Shift_Del	DEL	CACT	CACT	-	rs200339723|rs45546236|rs72102767	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	CACT	CACT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:21435341_21435344delCACT	ENST00000534331.1	-	1	144_147	c.94_97delAGTG	c.(94-99)agtgttfs	p.SV32fs	C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs|C10orf113_ENST00000529198.1_Frame_Shift_Del_p.SV32fs|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	32										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAAGCACAAACACTCTCTCTCATA	0.397														1260	0.251597	0.2315	0.1671	5008	,	,		20280	0.3571		0.1948	False		,,,				2504	0.2883																0									,,,	902,3362		95,712,1325					,,,	-1.1	0.0		dbSNP_130	149	1513,6741		144,1225,2758	no	intron,frameshift,intron,frameshift	NEBL,C10orf113	NM_213569.2,NM_001177483.1,NM_001173484.1,NM_001010896.2	,,,	239,1937,4083	A1A1,A1R,RR		18.3305,21.1538,19.2922	,,,	,,,		2415,10103				SO:0001589	frameshift_variant	387638				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.94_97delAGTG	10.37:g.21435341_21435344delCACT	ENSP00000433646:p.Ser32fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIM9|E9PRX7	Frame_Shift_Del	DEL	NULL	p.S32fs	ENST00000534331.1	37	c.97_94	CCDS31162.2	10																																																																																			C10orf113	-	NULL		0.397	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf113	HGNC	protein_coding	OTTHUMT00000047108.3	CACT	NM_001010896		21435344	-1	no_errors	ENST00000534331	ensembl	human	known	70_37	frame_shift_del	DEL	0.006:0.007:0.007:0.008	-
C11orf63	79864	genome.wustl.edu	37	11	122774915	122774915	+	Silent	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:122774915G>T	ENST00000531316.1	+	2	719	c.627G>T	c.(625-627)ccG>ccT	p.P209P	C11orf63_ENST00000227349.2_Silent_p.P209P|C11orf63_ENST00000307257.6_Silent_p.P209P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	209					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAGCAAGCCGTTTTCAGAGC	0.507																																																	0													99.0	87.0	91.0					11																	122774915		2202	4299	6501	SO:0001819	synonymous_variant	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.627G>T	11.37:g.122774915G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	NULL	p.P209	ENST00000531316.1	37	c.627	CCDS8438.1	11																																																																																			C11orf63	-	NULL		0.507	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	G	NM_024806		122774915	+1	no_errors	ENST00000227349	ensembl	human	known	70_37	silent	SNP	0.000	T
C9orf153	389766	genome.wustl.edu	37	9	88836483	88836483	+	3'UTR	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr9:88836483C>A	ENST00000339137.3	-	0	541				C9orf153_ENST00000469914.1_5'UTR	NM_001276367.1|NM_001276368.1	NP_001263296.1|NP_001263297.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153											breast(1)|lung(1)	2						CAAAGACTTGCGAACTATAGG	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	389766				CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000339137.3:c.*120G>T	9.37:g.88836483C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBE4	RNA	SNP	-	NULL	ENST00000339137.3	37	NULL		9																																																																																			C9orf153	-	-		0.353	C9orf153-001	KNOWN	basic|appris_candidate	protein_coding	C9orf153	HGNC	protein_coding	OTTHUMT00000052911.2	C	NM_001010907		88836483	-1	no_errors	ENST00000469914	ensembl	human	known	70_37	rna	SNP	0.000	A
CCDC144CP	348254	genome.wustl.edu	37	17	18454926	18454927	+	IGR	INS	-	-	C	rs201304632	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr17:18454926_18454927insC								CTD-2303H24.2 (9692 upstream) : CCDC144B (36665 downstream)																							GCAAGGTGACTTAGGACTGGCC	0.426													C|-|C|deletion	91	0.0181709	0.0651	0.0058	5008	,	,		12679	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	284047																															17.37:g.18454926_18454927insC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL		37	NULL		17																																																																																			CCDC144B	-	-	0	0.426					CCDC144B	HGNC			-			18454927	-1	no_errors	ENST00000446853	ensembl	human	known	70_37	rna	INS	0.001:0.001	C
CDH6	1004	genome.wustl.edu	37	5	31318086	31318086	+	Intron	SNP	A	A	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:31318086A>G	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Missense_Mutation_p.Y591C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACACTGTTACTGTGACACT	0.507																																																	0																																										SO:0001627	intron_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+55A>G	5.37:g.31318086A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y591C	ENST00000265071.2	37	c.1772	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154597	0.38021	.	.	ENSG00000113361	ENST00000514738	T	0.55413	0.52	4.33	3.15	0.36227	.	.	.	.	.	T	0.39091	0.1065	.	.	.	0.80722	D	1	D	0.55605	0.972	B	0.40825	0.341	T	0.15037	-1.0451	8	0.38643	T	0.18	.	6.0067	0.19551	0.8739:0.0:0.1261:0.0	.	646	P55285-2	.	C	591	ENSP00000424843:Y591C	ENSP00000424843:Y591C	Y	+	2	0	CDH6	31353843	0.312000	0.24545	0.995000	0.50966	0.997000	0.91878	0.788000	0.26872	0.792000	0.33850	0.533000	0.62120	TAC	CDH6	-	NULL		0.507	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	A	NM_004932		31318086	+1	no_errors	ENST00000514738	ensembl	human	putative	70_37	missense	SNP	0.999	G
CDH6	1004	genome.wustl.edu	37	5	31318086	31318086	+	Intron	SNP	A	A	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:31318086A>G	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Missense_Mutation_p.Y591C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCACACTGTTACTGTGACACT	0.507																																																	0																																										SO:0001627	intron_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+55A>G	5.37:g.31318086A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y591C	ENST00000265071.2	37	c.1772	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154597	0.38021	.	.	ENSG00000113361	ENST00000514738	T	0.55413	0.52	4.33	3.15	0.36227	.	.	.	.	.	T	0.39091	0.1065	.	.	.	0.80722	D	1	D	0.55605	0.972	B	0.40825	0.341	T	0.15037	-1.0451	8	0.38643	T	0.18	.	6.0067	0.19551	0.8739:0.0:0.1261:0.0	.	646	P55285-2	.	C	591	ENSP00000424843:Y591C	ENSP00000424843:Y591C	Y	+	2	0	CDH6	31353843	0.312000	0.24545	0.995000	0.50966	0.997000	0.91878	0.788000	0.26872	0.792000	0.33850	0.533000	0.62120	TAC	CDH6	-	NULL		0.507	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	A	NM_004932		31318086	+1	no_errors	ENST00000514738	ensembl	human	putative	70_37	missense	SNP	0.999	G
CEACAMP3	1092	genome.wustl.edu	37	19	42111668	42111668	+	RNA	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:42111668G>C	ENST00000473762.2	+	0	877									carcinoembryonic antigen-related cell adhesion molecule pseudogene 3																		ATAAAAACTTGATATTCATAT	0.299																																																	0																																												1092			M96923		19q13.2	2010-03-23	2010-03-23	2010-03-23	ENSG00000239736	ENSG00000239736			1825	pseudogene	pseudogene			"""carcinoembryonic antigen-related cell adhesion molecule 24, pseudogene"""	CGM10, CEACAM24P		7851895, 7851896	Standard	NG_001098		Approved				OTTHUMG00000151558		19.37:g.42111668G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000473762.2	37	NULL		19																																																																																			CEACAMP3	-	-		0.299	CEACAMP3-002	KNOWN	basic|exp_conf	processed_transcript	CEACAMP3	HGNC	pseudogene	OTTHUMT00000323116.2	G	NG_001098		42111668	+1	no_errors	ENST00000473762	ensembl	human	known	70_37	rna	SNP	0.001	C
CEP250	11190	genome.wustl.edu	37	20	34054842	34054842	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:34054842C>T	ENST00000397527.1	+	8	1264	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	CEP250_ENST00000342580.4_Missense_Mutation_p.R182W|CEP250_ENST00000397524.1_Missense_Mutation_p.R182W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	182					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGTCTATGGCGGGAGGTTGT	0.532																																																	0													87.0	79.0	82.0					20																	34054842		2203	4300	6503	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.544C>T	20.37:g.34054842C>T	ENSP00000380661:p.Arg182Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.R182W	ENST00000397527.1	37	c.544	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831735	0.71258	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.65178	1.59;1.6;-0.14;0.64	6.07	4.01	0.46588	.	0.997716	0.08115	N	0.995594	T	0.81178	0.4768	M	0.79926	2.475	0.45477	D	0.998448	D	0.89917	1.0	D	0.91635	0.999	T	0.72557	-0.4257	10	0.87932	D	0	.	13.0594	0.58997	0.384:0.616:0.0:0.0	.	182	Q9BV73	CP250_HUMAN	W	182	ENSP00000380661:R182W;ENSP00000341541:R182W;ENSP00000380658:R182W;ENSP00000413827:R182W	ENSP00000341541:R182W	R	+	1	2	CEP250	33518256	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.337000	0.33862	0.702000	0.31825	0.650000	0.86243	CGG	CEP250	-	NULL		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	C	NM_007186		34054842	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	missense	SNP	1.000	T
CGN	57530	genome.wustl.edu	37	1	151508792	151508792	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:151508792C>T	ENST00000271636.7	+	19	3410	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1087					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGACGAGCGGCAGCATGT	0.473																																																	0													63.0	64.0	64.0					1																	151508792		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3277C>T	1.37:g.151508792C>T	ENSP00000271636:p.Arg1093Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R1093W	ENST00000271636.7	37	c.3277	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041869	0.75732	.	.	ENSG00000143375	ENST00000271636	T	0.81247	-1.47	5.65	2.34	0.29019	Myosin tail (1);	0.048549	0.85682	D	0.000000	D	0.85915	0.5808	M	0.86028	2.79	0.45867	D	0.998729	D	0.89917	1.0	D	0.97110	1.0	D	0.86677	0.1914	10	0.87932	D	0	-32.4372	9.5657	0.39396	0.33:0.5959:0.0:0.074	.	1087	Q9P2M7	CING_HUMAN	W	1093	ENSP00000271636:R1093W	ENSP00000271636:R1093W	R	+	1	2	CGN	149775416	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	0.825000	0.27393	0.717000	0.32145	0.655000	0.94253	CGG	CGN	-	pfam_Myosin_tail		0.473	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151508792	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.966	T
CGN	57530	genome.wustl.edu	37	1	151508792	151508792	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:151508792C>T	ENST00000271636.7	+	19	3410	c.3277C>T	c.(3277-3279)Cgg>Tgg	p.R1093W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1087					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAAGACGAGCGGCAGCATGT	0.473																																																	0													63.0	64.0	64.0					1																	151508792		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3277C>T	1.37:g.151508792C>T	ENSP00000271636:p.Arg1093Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R1093W	ENST00000271636.7	37	c.3277	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041869	0.75732	.	.	ENSG00000143375	ENST00000271636	T	0.81247	-1.47	5.65	2.34	0.29019	Myosin tail (1);	0.048549	0.85682	D	0.000000	D	0.85915	0.5808	M	0.86028	2.79	0.45867	D	0.998729	D	0.89917	1.0	D	0.97110	1.0	D	0.86677	0.1914	10	0.87932	D	0	-32.4372	9.5657	0.39396	0.33:0.5959:0.0:0.074	.	1087	Q9P2M7	CING_HUMAN	W	1093	ENSP00000271636:R1093W	ENSP00000271636:R1093W	R	+	1	2	CGN	149775416	0.999000	0.42202	0.999000	0.59377	0.969000	0.65631	0.825000	0.27393	0.717000	0.32145	0.655000	0.94253	CGG	CGN	-	pfam_Myosin_tail		0.473	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	C	NM_020770		151508792	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.966	T
COL8A1	1295	genome.wustl.edu	37	3	99514229	99514229	+	Missense_Mutation	SNP	G	G	C	rs34878103		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:99514229G>C	ENST00000261037.3	+	5	1864	c.1484G>C	c.(1483-1485)gGc>gCc	p.G495A	COL8A1_ENST00000273342.4_Missense_Mutation_p.G495A	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	495	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTTTACAGGGCCCCCCAGGT	0.657																																																	0													9.0	10.0	10.0					3																	99514229		2191	4277	6468	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1484G>C	3.37:g.99514229G>C	ENSP00000261037:p.Gly495Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G495A	ENST00000261037.3	37	c.1484	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121837	0.56613	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.97850	-4.57;-4.57	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99457	1.0942	10	0.87932	D	0	.	17.849	0.88739	0.0:0.0:1.0:0.0	.	496;495	E7EPK9;P27658	.;CO8A1_HUMAN	A	495	ENSP00000261037:G495A;ENSP00000273342:G495A	ENSP00000261037:G495A	G	+	2	0	COL8A1	100996919	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.824000	0.99380	2.812000	0.96745	0.557000	0.71058	GGC	COL8A1	-	pfam_Collagen		0.657	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99514229	+1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	C
CTBS	1486	genome.wustl.edu	37	1	85040024	85040024	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																																	0													3.0	4.0	4.0					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	1486			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L25	ENST00000370630.5	37	c.75	CCDS698.1	1																																																																																			CTBS	-	NULL		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2	C	NM_004388		85040024	-1	no_errors	ENST00000370630	ensembl	human	known	70_37	silent	SNP	0.006	T
DCAF8L2	347442	genome.wustl.edu	37	X	27766524	27766524	+	Silent	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:27766524C>A	ENST00000451261.2	+	5	1911	c.1512C>A	c.(1510-1512)atC>atA	p.I504I		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	504										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGCCAAATCATCCAGTTCC	0.483																																																	0													110.0	85.0	93.0					X																	27766524		692	1591	2283	SO:0001819	synonymous_variant	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1512C>A	X.37:g.27766524C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I504	ENST00000451261.2	37	c.1512	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.483	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27766524	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	silent	SNP	0.014	A
CXXC1P1	392459	genome.wustl.edu	37	X	47612412	47612412	+	IGR	SNP	C	C	A	rs188442559		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:47612412C>A								CXXC1P1 (16385 upstream) : ZNF81 (83888 downstream)																							TCTACAAACTCAAGCAAAGTA	0.358																																																	0																																										SO:0001628	intergenic_variant	392459																															X.37:g.47612412C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		X																																																																																			CXXC1P1	-	-	0	0.358					CXXC1P1	HGNC			C			47612412	+1	no_errors	ENST00000589302	ensembl	human	known	70_37	rna	SNP	0.106	A
DGKB	1607	genome.wustl.edu	37	7	14661096	14661096	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:14661096C>A	ENST00000403951.2	-	15	1613	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	DGKB_ENST00000406247.3_Missense_Mutation_p.K398N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.K398N|DGKB_ENST00000444700.2_Missense_Mutation_p.K379N|DGKB_ENST00000399322.3_Missense_Mutation_p.K398N|DGKB_ENST00000407950.1_Missense_Mutation_p.K390N|DGKB_ENST00000402815.1_Missense_Mutation_p.K397N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	398					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CACTCTTTTCCTTTTTCACTG	0.308																																																	0													142.0	118.0	126.0					7																	14661096		1816	4072	5888	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1194G>T	7.37:g.14661096C>A	ENSP00000385780:p.Lys398Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K398N	ENST00000403951.2	37	c.1194	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638237	0.29157	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.80566	-1.3;-1.3;-1.3;-1.29;-1.29;-1.27;-1.39	4.86	3.02	0.34903	.	0.547104	0.19044	N	0.124212	T	0.66327	0.2778	L	0.40543	1.245	0.43745	D	0.996246	B;B;B;B	0.29341	0.142;0.0;0.001;0.242	B;B;B;B	0.23574	0.028;0.005;0.002;0.047	T	0.57808	-0.7747	10	0.21540	T	0.41	.	5.1912	0.15210	0.0:0.5825:0.0:0.4175	.	397;379;398;398	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	N	398;398;398;397;390;379;398	ENSP00000385780:K398N;ENSP00000382260:K398N;ENSP00000258767:K398N;ENSP00000384909:K397N;ENSP00000385031:K390N;ENSP00000388451:K379N;ENSP00000386066:K398N	ENSP00000258767:K398N	K	-	3	2	DGKB	14627621	0.998000	0.40836	1.000000	0.80357	0.937000	0.57800	0.434000	0.21494	1.176000	0.42840	0.313000	0.20887	AAG	DGKB	-	NULL		0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	C	NM_004080		14661096	-1	no_errors	ENST00000258767	ensembl	human	known	70_37	missense	SNP	1.000	A
MIR15A	406948	genome.wustl.edu	37	13	50618817	50618817	+	IGR	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr13:50618817C>T								KCNRG (23759 upstream) : MIR16-1 (4291 downstream)																							AAGTTTAGGTCATTTTTTTTT	0.303																																																	0																																										SO:0001628	intergenic_variant	8847																															13.37:g.50618817C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		13																																																																																			DLEU2	-	-	0	0.303					DLEU2	HGNC			C			50618817	-1	no_errors	ENST00000235290	ensembl	human	known	70_37	rna	SNP	0.000	T
ENOSF1	55556	genome.wustl.edu	37	18	690729	690730	+	Intron	INS	-	-	T	rs201690054		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr18:690729_690730insT	ENST00000251101.7	-	8	624				ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000319815.6_5'Flank|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000340116.7_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1						cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GAGTCCAGCTGTTCTCCTGATC	0.545																																																	0																																										SO:0001627	intron_variant	55556			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.536-98->A	18.37:g.690731_690731dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Frame_Shift_Ins	INS	pfam_Mandelate_racemase_N	p.T147fs	ENST00000251101.7	37	c.440_439	CCDS11822.1	18																																																																																			ENOSF1	-	NULL		0.545	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	-	NM_017512		690730	-1	no_errors	ENST00000581475	ensembl	human	known	70_37	frame_shift_ins	INS	0.009:0.019	T
PDE9A	5152	genome.wustl.edu	37	21	44154376	44154376	+	Intron	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr21:44154376G>T	ENST00000291539.6	+	7	628				PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AAGGAGTGTCGATTCAAGTCC	0.428																																																	0																																										SO:0001627	intron_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.568+840G>T	21.37:g.44154376G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	SNP	-	NULL	ENST00000291539.6	37	NULL	CCDS13690.1	21																																																																																			AP001627.1	-	-		0.428	PDE9A-016	KNOWN	basic|CCDS	protein_coding	ENSG00000225731	Clone_based_vega_gene	protein_coding	OTTHUMT00000195466.1	G			44154376	-1	no_errors	ENST00000437426	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC101927209	101927209	genome.wustl.edu	37	1	142619328	142619328	+	lincRNA	SNP	G	G	A	rs113610102		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:142619328G>A	ENST00000610091.1	-	0	13678				RP11-417J8.3_ENST00000426408.1_lincRNA																							TTCACTGTGTGACCTGCCTAG	0.468																																																	0																																												0																															1.37:g.142619328G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			AL583842.3	-	-		0.468	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000230880	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	G			142619328	+1	no_errors	ENST00000411746	ensembl	human	known	70_37	rna	SNP	0.075	A
LINC00692	285326	genome.wustl.edu	37	3	25913294	25913294	+	5'UTR	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:25913294C>A	ENST00000451284.1	-	0	319				LINC00692_ENST00000496997.1_5'UTR					long intergenic non-protein coding RNA 692																		AAATTTACCTCTAGTGTTCCC	0.348																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC033370		3p24.2	2013-01-16			ENSG00000230891	ENSG00000230891		"""Long non-coding RNAs"""	27708	other	unknown						12477932	Standard	NR_034055		Approved		uc003cdo.3		OTTHUMG00000155601	ENST00000451284.1:c.-124G>T	3.37:g.25913294C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451284.1	37	NULL		3																																																																																			AC103588.1	-	-		0.348	LINC00692-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000230891	Clone_based_vega_gene	protein_coding	OTTHUMT00000340855.1	C	NR_034055		25913294	-1	no_errors	ENST00000496997	ensembl	human	known	70_37	rna	SNP	0.269	A
AP001604.3	0	genome.wustl.edu	37	21	28732863	28732863	+	lincRNA	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr21:28732863G>T	ENST00000420186.2	-	0	943				AP001605.4_ENST00000447384.1_lincRNA																							ggcccctctggGTAGAGAGAA	0.468																																																	0																																												0																															21.37:g.28732863G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000420186.2	37	NULL		21																																																																																			AP001604.3	-	-		0.468	AP001604.3-001	KNOWN	basic	lincRNA	ENSG00000231236	Clone_based_vega_gene	lincRNA	OTTHUMT00000171665.2	G			28732863	-1	no_errors	ENST00000420186	ensembl	human	known	70_37	rna	SNP	0.004	T
WDR91	29062	genome.wustl.edu	37	7	134884911	134884911	+	Intron	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:134884911G>T	ENST00000354475.4	-	7	923				WDR91_ENST00000423565.1_Intron|WDR91_ENST00000485942.1_Intron|AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000344400.5_Intron|AC009542.2_ENST00000412549.2_RNA	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91											breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAGCTGGTGAATGCGGTTG	0.328																																																	0																																										SO:0001627	intron_variant	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.892-2008C>A	7.37:g.134884911G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	RNA	SNP	-	NULL	ENST00000354475.4	37	NULL	CCDS34758.1	7																																																																																			AC009542.2	-	-		0.328	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231794	Clone_based_vega_gene	protein_coding	OTTHUMT00000340019.1	G	NM_014149		134884911	+1	no_errors	ENST00000412549	ensembl	human	known	70_37	rna	SNP	0.044	T
GABRA3	2556	genome.wustl.edu	37	X	151332919	151332919	+	IGR	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:151332919G>T	ENST00000370314.4	-	0	3712				RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ttggttgcttgttcatccctc	0.478																																					NSCLC(142;2578 2613 10251 16743)												0																																										SO:0001628	intergenic_variant	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183		X.37:g.151332919G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAF9	RNA	SNP	-	NULL	ENST00000370314.4	37	NULL	CCDS14706.1	X																																																																																			RP11-329E24.6	-	-		0.478	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231937	Clone_based_vega_gene	protein_coding	OTTHUMT00000060921.1	G	NM_000808		151332919	+1	no_errors	ENST00000453915	ensembl	human	known	70_37	rna	SNP	0.000	T
RNU1-6P	106480152	genome.wustl.edu	37	1	16861068	16861068	+	lincRNA	SNP	C	C	T	rs2439821	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:16861068C>T	ENST00000516290.1	-	0	0																											TGCGCAAGTGCTTGGTAGAGT	0.572																																																	0																																												0																															1.37:g.16861068C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000516290.1	37	NULL		1																																																																																			RP5-875O13.1	-	-		0.572	U1.2-201	KNOWN	basic	snRNA	ENSG00000233421	Clone_based_vega_gene	lincRNA		C			16861068	-1	no_errors	ENST00000415386	ensembl	human	known	70_37	rna	SNP	0.000	T
RN7SL584P	106480519	genome.wustl.edu	37	15	20301149	20301149	+	RNA	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:20301149G>A	ENST00000492309.2	-	0	133									RNA, 7SL, cytoplasmic 584, pseudogene																		tattgaagctgaacttagcac	0.498																																																	0																																												0					15q11.1	2013-04-02			ENSG00000239471	ENSG00000239471		"""ncRNAs / Small cytoplasmic RNAs"""	46600	pseudogene	RNA, pseudogene							Standard			Approved						15.37:g.20301149G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000492309.2	37	NULL		15																																																																																			Metazoa_SRP	-	-		0.498	RN7SL584P-201	KNOWN	basic	misc_RNA	ENSG00000239471	RFAM	misc_RNA		G			20301149	-1	no_errors	ENST00000492309	ensembl	human	novel	70_37	rna	SNP	0.078	A
FGF10-AS1	101927075	genome.wustl.edu	37	5	44413408	44413408	+	RNA	SNP	C	C	A	rs554624163|rs77111865		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:44413408C>A	ENST00000502457.1	+	0	1211																											TCCTTGAAGGCAAAAAAAAAA	0.363																																																	0																																												0																															5.37:g.44413408C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000502457.1	37	NULL		5																																																																																			RP11-473L15.2	-	-		0.363	RP11-473L15.2-001	KNOWN	basic	antisense	ENSG00000248464	Clone_based_vega_gene	antisense	OTTHUMT00000368031.1	C			44413408	+1	no_errors	ENST00000502457	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-25H12.1	0	genome.wustl.edu	37	4	66864981	66864981	+	lincRNA	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:66864981G>C	ENST00000508572.1	+	0	418																											gggagctgtagaccggagctg	0.517																																																	0																																												0																															4.37:g.66864981G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000508572.1	37	NULL		4																																																																																			RP11-25H12.1	-	-		0.517	RP11-25H12.1-001	KNOWN	basic	lincRNA	ENSG00000249413	Clone_based_vega_gene	lincRNA	OTTHUMT00000361859.1	G			66864981	+1	no_errors	ENST00000508572	ensembl	human	known	70_37	rna	SNP	0.112	C
NAF1	92345	genome.wustl.edu	37	4	164040740	164040740	+	Intron	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:164040740G>T	ENST00000509434.1	-	3	167				RP11-563E2.2_ENST00000503478.1_RNA|RP11-563E2.2_ENST00000504628.1_RNA			Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein						pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTCTTAGCAAGACTAAA	0.433																																																	0																																										SO:0001627	intron_variant	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000509434.1:c.115-9298C>A	4.37:g.164040740G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP28|E9PAZ2	RNA	SNP	-	NULL	ENST00000509434.1	37	NULL		4																																																																																			RP11-563E2.2	-	-		0.433	NAF1-006	PUTATIVE	basic	protein_coding	ENSG00000250027	Clone_based_vega_gene	protein_coding	OTTHUMT00000364728.1	G	NM_138386		164040740	+1	no_errors	ENST00000503478	ensembl	human	putative	70_37	rna	SNP	0.001	T
FER	2241	genome.wustl.edu	37	5	108153913	108153913	+	Intron	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:108153913G>T	ENST00000281092.4	+	4	591				FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000536402.1_Intron|FER_ENST00000502752.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		tggattgcttgagctcaggag	0.438																																					Colon(146;1051 1799 9836 27344 47401)												0																																										SO:0001627	intron_variant	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.208-14558G>T	5.37:g.108153913G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR4|B4DSQ2|H2FLB8	RNA	SNP	-	NULL	ENST00000281092.4	37	NULL	CCDS4098.1	5																																																																																			CTD-2197I11.1	-	-		0.438	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250383	Clone_based_vega_gene	protein_coding	OTTHUMT00000250664.1	G	NM_005246		108153913	-1	no_errors	ENST00000510935	ensembl	human	known	70_37	rna	SNP	0.003	T
FER	2241	genome.wustl.edu	37	5	108153944	108153944	+	Intron	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:108153944C>T	ENST00000281092.4	+	4	591				FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000536402.1_Intron|FER_ENST00000502752.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		gcctggacatcatggtgaaat	0.488																																					Colon(146;1051 1799 9836 27344 47401)												0																																										SO:0001627	intron_variant	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.208-14527C>T	5.37:g.108153944C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR4|B4DSQ2|H2FLB8	RNA	SNP	-	NULL	ENST00000281092.4	37	NULL	CCDS4098.1	5																																																																																			CTD-2197I11.1	-	-		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250383	Clone_based_vega_gene	protein_coding	OTTHUMT00000250664.1	C	NM_005246		108153944	-1	no_errors	ENST00000510935	ensembl	human	known	70_37	rna	SNP	0.002	T
CBR4	84869	genome.wustl.edu	37	4	169932069	169932069	+	5'Flank	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:169932069C>A	ENST00000306193.3	-	0	0				RP11-483A20.3_ENST00000506933.1_RNA|CBR4_ENST00000504480.1_5'Flank	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4						daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AATAGTCTTGCAAGATCTATG	0.413																																																	0																																										SO:0001631	upstream_gene_variant	0			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025		4.37:g.169932069C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WTW8|Q96K93	RNA	SNP	-	NULL	ENST00000306193.3	37	NULL	CCDS3812.1	4																																																																																			RP11-483A20.3	-	-		0.413	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000251445	Clone_based_vega_gene	protein_coding	OTTHUMT00000363441.2	C	NM_032783		169932069	+1	no_errors	ENST00000506933	ensembl	human	putative	70_37	rna	SNP	0.000	A
RP11-369E15.3	0	genome.wustl.edu	37	8	20820383	20820383	+	lincRNA	SNP	G	G	A	rs576384968		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:20820383G>A	ENST00000518967.1	-	0	145				RP11-369E15.2_ENST00000519605.1_lincRNA|RP11-369E15.4_ENST00000523852.1_lincRNA																							ctgagtagccggaattacagg	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18872	0.0		0.0	False		,,,				2504	0.0																0																																												0																															8.37:g.20820383G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000518967.1	37	NULL		8																																																																																			RP11-369E15.2	-	-		0.463	RP11-369E15.3-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000254026	Clone_based_vega_gene	lincRNA	OTTHUMT00000375268.1	G			20820383	+1	no_errors	ENST00000519605	ensembl	human	known	70_37	rna	SNP	0.012	A
LOC101928944	101928944	genome.wustl.edu	37	11	80473150	80473150	+	lincRNA	SNP	A	A	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:80473150A>T	ENST00000526840.1	-	0	719																											gcctcccaaaagttcagtttt	0.363																																																	0																																												0																															11.37:g.80473150A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000526840.1	37	NULL		11																																																																																			RP11-686G23.2	-	-		0.363	RP11-686G23.2-001	KNOWN	basic	lincRNA	ENSG00000255178	Clone_based_vega_gene	lincRNA	OTTHUMT00000391477.1	A			80473150	-1	no_errors	ENST00000526840	ensembl	human	known	70_37	rna	SNP	0.033	T
BMP2K	55589	genome.wustl.edu	37	4	79695440	79695440	+	5'Flank	SNP	A	A	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:79695440A>T	ENST00000335016.5	+	0	0				RP11-109G23.3_ENST00000564925.1_RNA|BMP2K_ENST00000502871.1_5'Flank	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase						regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ttttttttttaaagagatgag	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900		4.37:g.79695440A>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	RNA	SNP	-	NULL	ENST00000335016.5	37	NULL	CCDS47083.1	4																																																																																			RP11-109G23.3	-	-		0.403	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000260278	Clone_based_vega_gene	protein_coding		A	NM_017593		79695440	-1	no_errors	ENST00000564925	ensembl	human	known	70_37	rna	SNP	0.368	T
GUCY1A2	2977	genome.wustl.edu	37	11	106546453	106546453	+	3'UTR	SNP	G	G	A	rs398045532|rs34111809	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:106546453G>A	ENST00000526355.2	-	0	14489					NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TCAAGACAAAGGTTTTCTTAA	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.*11822C>T	11.37:g.106546453G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C4|B7ZLT5	RNA	SNP	-	NULL	ENST00000526355.2	37	NULL	CCDS8335.1	11																																																																																			RP13-259F12.2	-	-		0.279	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000260512	Clone_based_vega_gene	protein_coding	OTTHUMT00000389003.2	G			106546453	-1	no_errors	ENST00000561520	ensembl	human	known	70_37	rna	SNP	0.000	A
RP4-798A10.7	0	genome.wustl.edu	37	1	16842000	16842000	+	lincRNA	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:16842000C>T	ENST00000562878.1	+	0	861				RNU1-1_ENST00000383925.1_RNA																							attatatgctcattaacatac	0.478																																																	0																																												0																															1.37:g.16842000C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562878.1	37	NULL		1																																																																																			RP4-798A10.7	-	-		0.478	RP4-798A10.7-001	KNOWN	basic	lincRNA	ENSG00000261135	Clone_based_vega_gene	lincRNA	OTTHUMT00000430936.1	C			16842000	+1	no_errors	ENST00000562878	ensembl	human	known	70_37	rna	SNP	0.116	T
LINC00928	283761	genome.wustl.edu	37	15	90052228	90052228	+	lincRNA	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:90052228T>C	ENST00000567484.1	+	0	37				LINC00928_ENST00000561201.1_lincRNA																							ttatgttatatataatatgat	0.1																																																	0																																												0																															15.37:g.90052228T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567484.1	37	NULL		15																																																																																			RP11-429B14.4	-	-		0.100	RP11-429B14.4-001	KNOWN	basic	lincRNA	ENSG00000261478	Clone_based_vega_gene	lincRNA	OTTHUMT00000421800.1	T			90052228	+1	no_errors	ENST00000567484	ensembl	human	known	70_37	rna	SNP	0.000	C
LINC00928	283761	genome.wustl.edu	37	15	90052252	90052252	+	lincRNA	SNP	G	G	A	rs373603755	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:90052252G>A	ENST00000567484.1	+	0	61				LINC00928_ENST00000561201.1_lincRNA																							taaatgttatgtgttatatat	0.1																																																	0																																												0																															15.37:g.90052252G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567484.1	37	NULL		15																																																																																			RP11-429B14.4	-	-		0.100	RP11-429B14.4-001	KNOWN	basic	lincRNA	ENSG00000261478	Clone_based_vega_gene	lincRNA	OTTHUMT00000421800.1	G			90052252	+1	no_errors	ENST00000567484	ensembl	human	known	70_37	rna	SNP	0.000	A
RAB40B	10966	genome.wustl.edu	37	17	80632513	80632514	+	Intron	INS	-	-	A	rs34107818	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr17:80632513_80632514insA	ENST00000571995.1	-	2	274				RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family						protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			agactcgtcttaaaaaaaaaaa	0.525																																																	0																																										SO:0001627	intron_variant	0			U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.143-10081->T	17.37:g.80632524_80632524dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVG3	RNA	INS	-	NULL	ENST00000571995.1	37	NULL	CCDS11816.1	17																																																																																			RP11-388C12.2	-	-		0.525	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262415	Clone_based_vega_gene	protein_coding	OTTHUMT00000439007.1	-			80632514	-1	no_errors	ENST00000574080	ensembl	human	known	70_37	rna	INS	0.172:0.166	A
PROSER3	148137	genome.wustl.edu	37	19	36261759	36261759	+	IGR	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:36261759C>G	ENST00000544099.1	+	0	2150				AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN												cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ctctttctctctctctctGAC	0.418																																																	0																																										SO:0001628	intergenic_variant	0																															19.37:g.36261759C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDI3|Q8WWC8|Q96NL4	RNA	SNP	-	NULL	ENST00000544099.1	37	NULL		19																																																																																			AC002398.13	-	-		0.418	C19orf55-001	KNOWN	basic	protein_coding	ENSG00000267049	Clone_based_vega_gene	protein_coding	OTTHUMT00000398160.2	C			36261759	-1	no_errors	ENST00000589397	ensembl	human	known	70_37	rna	SNP	0.003	G
ZNF155	7711	genome.wustl.edu	37	19	44502013	44502013	+	3'UTR	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:44502013G>A	ENST00000270014.2	+	0	2132				RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				aacaagaccagacacagaaat	0.478																																					NSCLC(61;554 1277 20909 42067 42312)												0																																										SO:0001624	3_prime_UTR_variant	0			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.*387G>A	19.37:g.44502013G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	RNA	SNP	-	NULL	ENST00000270014.2	37	NULL	CCDS12634.1	19																																																																																			RP11-15A1.7	-	-		0.478	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266921	Clone_based_vega_gene	protein_coding	OTTHUMT00000460074.1	G	NM_003445		44502013	-1	no_errors	ENST00000586860	ensembl	human	known	70_37	rna	SNP	0.750	A
LOC645553	645553	genome.wustl.edu	37	19	46693398	46693398	+	lincRNA	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:46693398G>C	ENST00000598518.1	-	0	531				AC007193.6_ENST00000597989.1_lincRNA																							accacatcatgattgctcctg	0.493																																																	0																																												0																															19.37:g.46693398G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000598518.1	37	NULL		19																																																																																			AC006262.5	-	-		0.493	AC006262.5-002	KNOWN	basic	lincRNA	ENSG00000268621	Clone_based_vega_gene	lincRNA	OTTHUMT00000461713.1	G			46693398	-1	no_errors	ENST00000598518	ensembl	human	known	70_37	rna	SNP	0.001	C
LAIR1	3903	genome.wustl.edu	37	19	54863047	54863047	+	IGR	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:54863047C>A	ENST00000391743.3	-	0	2606				CTD-2587H19.1_ENST00000596234.1_lincRNA			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACTTTCTTCACACAGATGCCA	0.318																																																	0																																										SO:0001628	intergenic_variant	0			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545		19.37:g.54863047C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000391743.3	37	NULL		19																																																																																			CTD-2587H19.1	-	-		0.318	LAIR1-005	PUTATIVE	basic	protein_coding	ENSG00000268802	Clone_based_vega_gene	protein_coding	OTTHUMT00000140510.2	C			54863047	-1	no_errors	ENST00000596234	ensembl	human	known	70_37	rna	SNP	0.008	A
EP400	57634	genome.wustl.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112																4	Substitution - coding silent(4)	prostate(2)|endometrium(1)|kidney(1)											48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2778	ENST00000333577.4	37	c.8334		12																																																																																			EP400	-	NULL		0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		A	NM_015409		132547138	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.021	G
NR2F1-AS1	441094	genome.wustl.edu	37	5	92879247	92879248	+	RNA	INS	-	-	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:92879247_92879248insA	ENST00000607797.1	-	0	1229				NR2F1-AS1_ENST00000606233.1_RNA|NR2F1-AS1_ENST00000606696.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000504474.1_RNA	NR_015369.1				NR2F1 antisense RNA 1																		gggcagataagaaaaaaaaaat	0.361																																																	0																																												441094			BC010610, DA718791		5q15	2013-05-28	2013-05-28	2013-05-28	ENSG00000237187	ENSG00000237187		"""Long non-coding RNAs"""	48622	non-coding RNA	RNA, long non-coding						23583100	Standard	NR_109824		Approved	FLJ42709			OTTHUMG00000162643		5.37:g.92879257_92879257dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000607797.1	37	NULL		5																																																																																			RP11-65F13.2	-	-		0.361	NR2F1-AS1-008	KNOWN	basic	antisense	FLJ42709	Clone_based_vega_gene	processed_transcript	OTTHUMT00000369870.2	-	NR_021490		92879248	-1	no_errors	ENST00000503134	ensembl	human	known	70_37	rna	INS	0.009:0.001	A
FYB	2533	genome.wustl.edu	37	5	39269864	39269864	+	5'UTR	SNP	A	A	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:39269864A>G	ENST00000503065.1	-	0	387				FYB_ENST00000540520.1_Intron|FYB_ENST00000512982.1_Intron			O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGCTGACAAAAGGCAGGTATC	0.458																																																	0																																										SO:0001623	5_prime_UTR_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000503065.1:c.-118T>C	5.37:g.39269864A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	RNA	SNP	-	NULL	ENST00000503065.1	37	NULL		5																																																																																			FYB	-	-		0.458	FYB-008	KNOWN	basic	processed_transcript	FYB	HGNC	protein_coding	OTTHUMT00000367824.1	A	NM_001465		39269864	-1	no_errors	ENST00000503065	ensembl	human	known	70_37	rna	SNP	0.029	G
NR2F1-AS1	441094	genome.wustl.edu	37	5	92879626	92879626	+	RNA	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:92879626C>A	ENST00000607797.1	-	0	1229				NR2F1-AS1_ENST00000606233.1_RNA|NR2F1-AS1_ENST00000606696.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000504474.1_RNA	NR_015369.1				NR2F1 antisense RNA 1																		attgcacttccaaaaagtttg	0.328																																																	0																																												441094			BC010610, DA718791		5q15	2013-05-28	2013-05-28	2013-05-28	ENSG00000237187	ENSG00000237187		"""Long non-coding RNAs"""	48622	non-coding RNA	RNA, long non-coding						23583100	Standard	NR_109824		Approved	FLJ42709			OTTHUMG00000162643		5.37:g.92879626C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000607797.1	37	NULL		5																																																																																			RP11-65F13.2	-	-		0.328	NR2F1-AS1-008	KNOWN	basic	antisense	FLJ42709	Clone_based_vega_gene	processed_transcript	OTTHUMT00000369870.2	C	NR_021490		92879626	-1	no_errors	ENST00000503134	ensembl	human	known	70_37	rna	SNP	0.060	A
GLI2	2736	genome.wustl.edu	37	2	121744182	121744182	+	Missense_Mutation	SNP	C	C	T	rs369835105		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:121744182C>T	ENST00000452319.1	+	13	2345	c.2285C>T	c.(2284-2286)cCg>cTg	p.P762L	GLI2_ENST00000314490.11_Missense_Mutation_p.P434L|GLI2_ENST00000361492.4_Missense_Mutation_p.P762L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCTCCCGGGAAGTGGT	0.597																																																	0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		2285	4.1	1.0	2		55	0,8600		0,0,4300	no	missense	GLI2	NM_005270.4	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	762/1587	121744182	1,13005	2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2285C>T	2.37:g.121744182C>T	ENSP00000390436:p.Pro762Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P762L	ENST00000452319.1	37	c.2285	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993594	0.54041	2.27E-4	0.0	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.88664	-2.41;-2.41;-2.41	4.98	4.11	0.48088	.	0.227351	0.46145	D	0.000312	D	0.84620	0.5512	M	0.62016	1.91	0.80722	D	1	B;P;B;P	0.52170	0.225;0.588;0.147;0.951	B;B;B;B	0.40134	0.028;0.103;0.035;0.32	T	0.82051	-0.0649	10	0.31617	T	0.26	.	9.1125	0.36737	0.0:0.7759:0.1468:0.0774	.	762;417;417;434	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	L	762;762;434	ENSP00000390436:P762L;ENSP00000354586:P762L;ENSP00000312694:P434L	ENSP00000312694:P434L	P	+	2	0	GLI2	121460652	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	2.826000	0.48104	1.327000	0.45338	0.655000	0.94253	CCG	GLI2	-	NULL		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121744182	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121744182	121744182	+	Missense_Mutation	SNP	C	C	T	rs369835105		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:121744182C>T	ENST00000452319.1	+	13	2345	c.2285C>T	c.(2284-2286)cCg>cTg	p.P762L	GLI2_ENST00000314490.11_Missense_Mutation_p.P434L|GLI2_ENST00000361492.4_Missense_Mutation_p.P762L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCTCCCGGGAAGTGGT	0.597																																																	0								C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		2285	4.1	1.0	2		55	0,8600		0,0,4300	no	missense	GLI2	NM_005270.4	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	762/1587	121744182	1,13005	2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2285C>T	2.37:g.121744182C>T	ENSP00000390436:p.Pro762Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P762L	ENST00000452319.1	37	c.2285	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993594	0.54041	2.27E-4	0.0	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.88664	-2.41;-2.41;-2.41	4.98	4.11	0.48088	.	0.227351	0.46145	D	0.000312	D	0.84620	0.5512	M	0.62016	1.91	0.80722	D	1	B;P;B;P	0.52170	0.225;0.588;0.147;0.951	B;B;B;B	0.40134	0.028;0.103;0.035;0.32	T	0.82051	-0.0649	10	0.31617	T	0.26	.	9.1125	0.36737	0.0:0.7759:0.1468:0.0774	.	762;417;417;434	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	L	762;762;434	ENSP00000390436:P762L;ENSP00000354586:P762L;ENSP00000312694:P434L	ENSP00000312694:P434L	P	+	2	0	GLI2	121460652	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	2.826000	0.48104	1.327000	0.45338	0.655000	0.94253	CCG	GLI2	-	NULL		0.597	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121744182	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	1.000	T
COLGALT1	79709	genome.wustl.edu	37	19	17666677	17666677	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:17666677C>T	ENST00000252599.4	+	1	275	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	52					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTGCAGGCGCCGCGCGTGCTC	0.781																																																	0													1.0	1.0	1.0					19																	17666677		629	1153	1782	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.155C>T	19.37:g.17666677C>T	ENSP00000252599:p.Pro52Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.P52L	ENST00000252599.4	37	c.155	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.569636	0.96540	.	.	ENSG00000130309	ENST00000252599	D	0.94613	-3.47	3.62	3.62	0.41486	.	0.063541	0.64402	D	0.000005	D	0.95564	0.8558	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95769	0.8807	10	0.87932	D	0	-17.2492	13.23	0.59938	0.0:1.0:0.0:0.0	.	52	Q8NBJ5	GT251_HUMAN	L	52	ENSP00000252599:P52L	ENSP00000252599:P52L	P	+	2	0	GLT25D1	17527677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.004000	0.70709	2.045000	0.60652	0.555000	0.69702	CCG	GLT25D1	-	NULL		0.781	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17666677	+1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	T
GRASP	160622	genome.wustl.edu	37	12	52408605	52408605	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:52408605C>T	ENST00000293662.4	+	8	890	c.810C>T	c.(808-810)cgC>cgT	p.R270R	GRASP_ENST00000380039.2_Silent_p.R127R|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_Silent_p.R127R	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	270					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCGTCCCCGCGGAGGCGCCC	0.786																																																	0													2.0	2.0	2.0					12																	52408605		1064	2449	3513	SO:0001819	synonymous_variant	160622			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.810C>T	12.37:g.52408605C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIF8|Q7Z741	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R270	ENST00000293662.4	37	c.810	CCDS8817.1	12																																																																																			GRASP	-	NULL		0.786	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	C			52408605	+1	no_errors	ENST00000293662	ensembl	human	known	70_37	silent	SNP	0.797	T
HBP1	26959	genome.wustl.edu	37	7	106826854	106826854	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:106826854G>T	ENST00000222574.4	+	5	775	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	HBP1_ENST00000468410.1_Missense_Mutation_p.D197Y|HBP1_ENST00000485846.1_Missense_Mutation_p.D197Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	197	Poly-Asp.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTCCCTGTCAGATGATGATGA	0.343																																																	0													197.0	186.0	190.0					7																	106826854		2203	4300	6503	SO:0001583	missense	26959			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.589G>T	7.37:g.106826854G>T	ENSP00000222574:p.Asp197Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily	p.D197Y	ENST00000222574.4	37	c.589	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036207	0.93630	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99394	-5.82;-5.82;-5.82	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98975	0.9651	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.98;0.956	D	0.99936	1.1359	10	0.87932	D	0	-14.2922	20.206	0.98277	0.0:0.0:1.0:0.0	.	207;197;197	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	Y	197;197;197;189	ENSP00000420500:D197Y;ENSP00000222574:D197Y;ENSP00000418738:D197Y	ENSP00000222574:D197Y	D	+	1	0	HBP1	106614090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.785000	0.95823	0.655000	0.94253	GAT	HBP1	-	NULL		0.343	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	G	NM_012257		106826854	+1	no_errors	ENST00000222574	ensembl	human	known	70_37	missense	SNP	1.000	T
HPCAL1	3241	genome.wustl.edu	37	2	10566867	10566867	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:10566867G>C	ENST00000381765.3	+	6	1028	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E168Q	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GTCCTTGGAAGAATTCATCAG	0.582																																					Pancreas(70;1384 1800 31595 46836)												0													135.0	136.0	136.0					2																	10566867		2203	4300	6503	SO:0001583	missense	3241				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.502G>C	2.37:g.10566867G>C	ENSP00000371184:p.Glu168Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E168Q	ENST00000381765.3	37	c.502	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029157	0.93518	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	D;D	0.86694	-2.16;-2.16	5.05	5.05	0.67936	EF-hand-like domain (1);	0.054652	0.64402	D	0.000001	D	0.95971	0.8688	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97578	1.0109	10	0.87932	D	0	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	168	P37235	HPCL1_HUMAN	Q	168	ENSP00000310749:E168Q;ENSP00000371184:E168Q	ENSP00000310749:E168Q	E	+	1	0	HPCAL1	10484318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.338000	0.79540	0.650000	0.86243	GAA	HPCAL1	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.582	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	G	NM_002149		10566867	+1	no_errors	ENST00000307845	ensembl	human	known	70_37	missense	SNP	1.000	C
HPCAL1	3241	genome.wustl.edu	37	2	10566867	10566867	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:10566867G>C	ENST00000381765.3	+	6	1028	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E168Q	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GTCCTTGGAAGAATTCATCAG	0.582																																					Pancreas(70;1384 1800 31595 46836)												0													135.0	136.0	136.0					2																	10566867		2203	4300	6503	SO:0001583	missense	3241				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.502G>C	2.37:g.10566867G>C	ENSP00000371184:p.Glu168Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E168Q	ENST00000381765.3	37	c.502	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029157	0.93518	.	.	ENSG00000115756	ENST00000307845;ENST00000381765	D;D	0.86694	-2.16;-2.16	5.05	5.05	0.67936	EF-hand-like domain (1);	0.054652	0.64402	D	0.000001	D	0.95971	0.8688	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97578	1.0109	10	0.87932	D	0	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	168	P37235	HPCL1_HUMAN	Q	168	ENSP00000310749:E168Q;ENSP00000371184:E168Q	ENSP00000310749:E168Q	E	+	1	0	HPCAL1	10484318	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.338000	0.79540	0.650000	0.86243	GAA	HPCAL1	-	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.582	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	G	NM_002149		10566867	+1	no_errors	ENST00000307845	ensembl	human	known	70_37	missense	SNP	1.000	C
IDO2	169355	genome.wustl.edu	37	8	39836100	39836100	+	Intron	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:39836100T>C	ENST00000389060.4	+	3	195				IDO2_ENST00000502986.2_Intron|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_Intron			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGGCAGCGTCAGGGGTTGT	0.582																																																	0																																										SO:0001627	intron_variant	169355			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.196-486T>C	8.37:g.39836100T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4UD41	RNA	SNP	-	NULL	ENST00000389060.4	37	NULL		8																																																																																			IDO2	-	-		0.582	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	T	NM_194294		39836100	+1	no_errors	ENST00000421393	ensembl	human	known	70_37	rna	SNP	0.000	C
KCNQ1	3784	genome.wustl.edu	37	11	2694379	2694379	+	Intron	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:2694379G>C	ENST00000155840.5	+	11	1622				KCNQ1OT1_ENST00000597346.1_RNA|KCNQ1_ENST00000335475.5_Intron	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GACCATCCCTGACCCAAGCAC	0.592																																																	0																																										SO:0001627	intron_variant	10984			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1514+11068G>C	11.37:g.2694379G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	RNA	SNP	-	NULL	ENST00000155840.5	37	NULL	CCDS7736.1	11																																																																																			KCNQ1OT1	-	-		0.592	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1OT1	HGNC	protein_coding	OTTHUMT00000027382.2	G	NM_000218		2694379	-1	no_errors	ENST00000597346	ensembl	human	known	70_37	rna	SNP	0.000	C
KCNQ1	3784	genome.wustl.edu	37	11	2696602	2696602	+	Intron	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:2696602G>C	ENST00000155840.5	+	11	1622				KCNQ1OT1_ENST00000597346.1_RNA|KCNQ1_ENST00000335475.5_Intron	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTGTGCATTAGAAAACATTTA	0.289																																																	0																																										SO:0001627	intron_variant	10984			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1514+13291G>C	11.37:g.2696602G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	RNA	SNP	-	NULL	ENST00000155840.5	37	NULL	CCDS7736.1	11																																																																																			KCNQ1OT1	-	-		0.289	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1OT1	HGNC	protein_coding	OTTHUMT00000027382.2	G	NM_000218		2696602	-1	no_errors	ENST00000597346	ensembl	human	known	70_37	rna	SNP	0.004	C
KIRREL3	84623	genome.wustl.edu	37	11	126873015	126873016	+	5'Flank	INS	-	-	A	rs55639536		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:126873015_126873016insA	ENST00000525144.2	-	0	0				KIRREL3_ENST00000525704.2_5'Flank|KIRREL3_ENST00000529097.2_5'Flank|KIRREL3_ENST00000533026.2_Intron|KIRREL3-AS3_ENST00000525678.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)						hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGAAAGAAAGAAAAAAAAAAA	0.564																																																	0																																										SO:0001631	upstream_gene_variant	283165			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831		11.37:g.126873026_126873026dupA	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	RNA	INS	-	NULL	ENST00000525144.2	37	NULL	CCDS53723.1	11																																																																																			KIRREL3-AS3	-	-		0.564	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3-AS3	HGNC	protein_coding	OTTHUMT00000386479.2	-	NM_032531		126873016	+1	no_errors	ENST00000525678	ensembl	human	known	70_37	rna	INS	0.001:0.021	A
LILRB3	11025	genome.wustl.edu	37	19	54722725	54722725	+	Intron	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:54722725G>C	ENST00000391750.1	-	10	1563				LILRB3_ENST00000245620.9_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGATGGACAGAGTCTCAGCC	0.488																																																	0													65.0	66.0	65.0					19																	54722725		2203	4300	6503	SO:0001627	intron_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1427-18C>G	19.37:g.54722725G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1P3|C9JIP1|O15471|Q86U49	RNA	SNP	-	NULL	ENST00000391750.1	37	NULL	CCDS33105.1	19																																																																																			LILRB3	-	-		0.488	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	G	NM_006864		54722725	-1	no_errors	ENST00000469273	ensembl	human	known	70_37	rna	SNP	0.008	C
LILRB3	11025	genome.wustl.edu	37	19	54722725	54722725	+	Intron	SNP	G	G	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:54722725G>C	ENST00000391750.1	-	10	1563				LILRB3_ENST00000245620.9_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000346401.6_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGATGGACAGAGTCTCAGCC	0.488																																																	0													65.0	66.0	65.0					19																	54722725		2203	4300	6503	SO:0001627	intron_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1427-18C>G	19.37:g.54722725G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1P3|C9JIP1|O15471|Q86U49	RNA	SNP	-	NULL	ENST00000391750.1	37	NULL	CCDS33105.1	19																																																																																			LILRB3	-	-		0.488	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	G	NM_006864		54722725	-1	no_errors	ENST00000469273	ensembl	human	known	70_37	rna	SNP	0.008	C
LIN54	132660	genome.wustl.edu	37	4	83905636	83905636	+	Nonsense_Mutation	SNP	G	G	T	rs376345923		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:83905636G>T	ENST00000340417.3	-	2	739	c.362C>A	c.(361-363)tCa>tAa	p.S121*	LIN54_ENST00000395283.2_Nonsense_Mutation_p.S121*|LIN54_ENST00000505397.1_Nonsense_Mutation_p.S121*|LIN54_ENST00000395282.2_Nonsense_Mutation_p.S121*|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000506560.1_Nonsense_Mutation_p.S121*	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	121					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGATGTCTGTGATACTTTGTT	0.378																																																	0													142.0	143.0	143.0					4																	83905636		2203	4300	6503	SO:0001587	stop_gained	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.362C>A	4.37:g.83905636G>T	ENSP00000341947:p.Ser121*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32M68|Q32M69|Q6N071|Q76B60	Nonsense_Mutation	SNP	pfam_CRC	p.S121*	ENST00000340417.3	37	c.362	CCDS3599.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999662	0.74818	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.5	4.65	0.58169	.	0.211523	0.40908	D	0.000996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7221	14.0452	0.64702	0.0:0.1525:0.8475:0.0	.	.	.	.	X	121	.	ENSP00000341947:S121X	S	-	2	0	LIN54	84124660	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.201000	0.65163	1.300000	0.44818	0.655000	0.94253	TCA	LIN54	-	NULL		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2	G	NM_194282		83905636	-1	no_errors	ENST00000340417	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CACNA1B	774	genome.wustl.edu	37	9	140785159	140785159	+	Intron	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr9:140785159C>T	ENST00000371372.1	+	3	675				CACNA1B_ENST00000371355.4_Intron|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTTCTCTTCAGGGGTCCCA	0.652																																																	0																																										SO:0001627	intron_variant	100133077			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.530+7824C>T	9.37:g.140785159C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	RNA	SNP	-	NULL	ENST00000371372.1	37	NULL	CCDS59522.1	9																																																																																			RP11-188C12.3	-	-		0.652	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	LOC100133077	Clone_based_vega_gene	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140785159	-1	no_errors	ENST00000371390	ensembl	human	known	70_37	rna	SNP	0.034	T
RP5-983L19.2	0	genome.wustl.edu	37	22	50117569	50117570	+	lincRNA	INS	-	-	TATA	rs72483599|rs397966536|rs34786929	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:50117569_50117570insTATA	ENST00000447372.1	-	0	584_585																											atatgtatatgtatatatatat	0.446														154	0.0307508	0.1036	0.0086	5008	,	,		13638	0.001		0.008	False		,,,				2504	0.002																0																																												100996524																															22.37:g.50117574_50117577dupTATA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000447372.1	37	NULL		22																																																																																			RP5-983L19.2	-	-		0.446	RP5-983L19.2-001	KNOWN	basic	lincRNA	LOC100996524	Clone_based_vega_gene	lincRNA	OTTHUMT00000317428.1	-			50117570	-1	no_errors	ENST00000447372	ensembl	human	known	70_37	rna	INS	0.001:0.001	TATA
LSS	4047	genome.wustl.edu	37	21	47612703	47612703	+	Intron	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr21:47612703T>C	ENST00000397728.3	-	21	2067				LSS_ENST00000522411.1_Intron|LSS_ENST00000457828.2_Intron|AP001468.1_ENST00000594486.1_Missense_Mutation_p.T165A|LSS_ENST00000356396.4_Intron	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)						cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					tgtacatgtgtgcatagacct	0.517																																					Pancreas(114;955 2313 34923 50507)												0																																										SO:0001627	intron_variant	101060037			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1989-830A>G	21.37:g.47612703T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.T204A	ENST00000397728.3	37	c.610	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	-	0.203	-1.042956	0.01997	.	.	ENSG00000235878	ENST00000424538	.	.	.	.	.	.	.	.	.	.	.	T	0.37293	0.0998	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.31724	-0.9933	3	0.48119	T	0.1	.	.	.	.	.	.	.	.	A	204	.	ENSP00000387845:T204A	T	-	1	0	AP001468.1	46437131	0.004000	0.15560	0.040000	0.18447	0.000000	0.00434	0.490000	0.22403	0.355000	0.24131	0.000000	0.15137	ACA	AP001468.1	-	superfamily_WD40_repeat_dom		0.517	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101060037	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000207274.2	T			47612703	-1	no_errors	ENST00000424538	ensembl	human	known	70_37	missense	SNP	0.067	C
LOC645752	645752	genome.wustl.edu	37	15	78208261	78208261	+	lincRNA	SNP	G	G	A	rs74027203	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:78208261G>A	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGGGAGGTCCGTAAAGCTGCT	0.572																																																	0																																												645752																															15.37:g.78208261G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	G			78208261	-1	no_errors	ENST00000563349	ensembl	human	known	70_37	rna	SNP	0.004	A
LRFN1	57622	genome.wustl.edu	37	19	39805231	39805231	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:39805231A>C	ENST00000248668.4	-	1	745	c.746T>G	c.(745-747)tTc>tGc	p.F249C	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	249						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGCCGCCGAAGCTGACGGT	0.692																																																	0													19.0	23.0	21.0					19																	39805231		2165	4281	6446	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.746T>G	19.37:g.39805231A>C	ENSP00000248668:p.Phe249Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F249C	ENST00000248668.4	37	c.746	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529462	0.64860	.	.	ENSG00000128011	ENST00000248668	T	0.54071	0.59	4.3	4.3	0.51218	.	0.000000	0.43110	D	0.000611	T	0.76593	0.4009	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82037	-0.0656	10	0.87932	D	0	.	11.4299	0.50034	1.0:0.0:0.0:0.0	.	249	Q9P244	LRFN1_HUMAN	C	249	ENSP00000248668:F249C	ENSP00000248668:F249C	F	-	2	0	LRFN1	44497071	1.000000	0.71417	0.993000	0.49108	0.877000	0.50540	7.284000	0.78650	1.811000	0.52892	0.402000	0.26972	TTC	LRFN1	-	NULL		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	A	NM_020862		39805231	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	C
LRFN1	57622	genome.wustl.edu	37	19	39805231	39805231	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:39805231A>C	ENST00000248668.4	-	1	745	c.746T>G	c.(745-747)tTc>tGc	p.F249C	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	249						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGCCGCCGAAGCTGACGGT	0.692																																																	0													19.0	23.0	21.0					19																	39805231		2165	4281	6446	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.746T>G	19.37:g.39805231A>C	ENSP00000248668:p.Phe249Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F249C	ENST00000248668.4	37	c.746	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529462	0.64860	.	.	ENSG00000128011	ENST00000248668	T	0.54071	0.59	4.3	4.3	0.51218	.	0.000000	0.43110	D	0.000611	T	0.76593	0.4009	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82037	-0.0656	10	0.87932	D	0	.	11.4299	0.50034	1.0:0.0:0.0:0.0	.	249	Q9P244	LRFN1_HUMAN	C	249	ENSP00000248668:F249C	ENSP00000248668:F249C	F	-	2	0	LRFN1	44497071	1.000000	0.71417	0.993000	0.49108	0.877000	0.50540	7.284000	0.78650	1.811000	0.52892	0.402000	0.26972	TTC	LRFN1	-	NULL		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	A	NM_020862		39805231	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	C
LTN1	26046	genome.wustl.edu	37	21	30339080	30339080	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr21:30339080G>T	ENST00000361371.5	-	10	1812	c.1733C>A	c.(1732-1734)tCt>tAt	p.S578Y	LTN1_ENST00000389195.2_Missense_Mutation_p.S624Y|LTN1_ENST00000389194.2_Missense_Mutation_p.S624Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	578					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAGGCCTGAAGAATTATGAGT	0.353																																																	0													59.0	56.0	57.0					21																	30339080		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1733C>A	21.37:g.30339080G>T	ENSP00000354977:p.Ser578Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.S578Y	ENST00000361371.5	37	c.1733		21	.	.	.	.	.	.	.	.	.	.	G	2.990	-0.208360	0.06180	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.24723	2.18;2.19;1.84	5.02	0.129	0.14739	.	1.261650	0.04804	N	0.434037	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.19418	-1.0306	10	0.02654	T	1	.	1.7599	0.02990	0.1696:0.3795:0.2:0.2509	.	578	O94822	LTN1_HUMAN	Y	624;578;624	ENSP00000373846:S624Y;ENSP00000354977:S578Y;ENSP00000373847:S624Y	ENSP00000354977:S578Y	S	-	2	0	LTN1	29260951	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.484000	0.06528	0.112000	0.17975	-0.127000	0.14921	TCT	LTN1	-	NULL		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	G	NM_015565		30339080	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	0.000	T
LINC00948	100507027	genome.wustl.edu	37	10	61498880	61498881	+	lincRNA	INS	-	-	A	rs573633749		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:61498880_61498881insA	ENST00000600486.1	-	0	182_183									long intergenic non-protein coding RNA 948																		gattccgtctcaaaaaaaaaaa	0.426																																																	0																																												100507027			AB019391, BG210823		10q21.2	2013-08-16			ENSG00000227877	ENSG00000227877		"""Long non-coding RNAs"""	48649	non-coding RNA	RNA, long non-coding	"""muscle specific 1"", ""muscle enriched RNA 1"""						Standard	NR_038199		Approved	M1, MUSER1			OTTHUMG00000018282		10.37:g.61498891_61498891dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000600486.1	37	NULL		10																																																																																			RP11-59J5.1	-	-		0.426	LINC00948-007	KNOWN	basic	lincRNA	M1	Clone_based_vega_gene	lincRNA	OTTHUMT00000461384.1	-	NR_038199		61498881	-1	no_errors	ENST00000598384	ensembl	human	known	70_37	rna	INS	0.064:0.062	A
MAP3K6	9064	genome.wustl.edu	37	1	27684232	27684232	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:27684232C>G	ENST00000493901.1	-	23	3290	c.3051G>C	c.(3049-3051)gaG>gaC	p.E1017D	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1017D|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1009D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1017					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGCAGATTCTCCGCCAGCG	0.667											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	27.0	27.0					1																	27684232		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3051G>C	1.37:g.27684232C>G	ENSP00000419591:p.Glu1017Asp	Somatic	796	WXS	Illumina HiSeq	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1017D	ENST00000493901.1	37	c.3051	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.440|2.440	-0.328823|-0.328823	0.05314|0.05314	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	5.18|5.18	-0.159|-0.159	0.13379|0.13379	.|.	.|.	.|.	.|.	.|.	T|T	0.29914|0.29914	0.0748|0.0748	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	0.999994|0.999994	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.28681|0.28681	-1.0036|-1.0036	9|5	0.05833|.	T|.	0.94|.	.|.	8.8516|8.8516	0.35203|0.35203	0.0:0.2814:0.562:0.1565|0.0:0.2814:0.562:0.1565	.|.	1009;1017|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	D|T	1009;1017;740;1017|741	ENSP00000363152:E1009D;ENSP00000419591:E1017D;ENSP00000350195:E1017D|.	ENSP00000350195:E1017D|.	E|R	-|-	3|2	2|0	MAP3K6|MAP3K6	27556819|27556819	0.000000|0.000000	0.05858|0.05858	0.157000|0.157000	0.22605|0.22605	0.163000|0.163000	0.22366|0.22366	0.184000|0.184000	0.16939|0.16939	-0.172000|-0.172000	0.10779|0.10779	-0.136000|-0.136000	0.14681|0.14681	GAG|AGA	MAP3K6	-	NULL		0.667	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27684232	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	0.091	G
MAP3K6	9064	genome.wustl.edu	37	1	27684232	27684232	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr1:27684232C>G	ENST00000493901.1	-	23	3290	c.3051G>C	c.(3049-3051)gaG>gaC	p.E1017D	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1017D|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1009D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1017					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGCAGATTCTCCGCCAGCG	0.667											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	27.0	27.0					1																	27684232		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3051G>C	1.37:g.27684232C>G	ENSP00000419591:p.Glu1017Asp	Somatic	796	WXS	Illumina HiSeq	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1017D	ENST00000493901.1	37	c.3051	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.440|2.440	-0.328823|-0.328823	0.05314|0.05314	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	5.18|5.18	-0.159|-0.159	0.13379|0.13379	.|.	.|.	.|.	.|.	.|.	T|T	0.29914|0.29914	0.0748|0.0748	L|L	0.28192|0.28192	0.835|0.835	0.09310|0.09310	N|N	0.999994|0.999994	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.28681|0.28681	-1.0036|-1.0036	9|5	0.05833|.	T|.	0.94|.	.|.	8.8516|8.8516	0.35203|0.35203	0.0:0.2814:0.562:0.1565|0.0:0.2814:0.562:0.1565	.|.	1009;1017|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	D|T	1009;1017;740;1017|741	ENSP00000363152:E1009D;ENSP00000419591:E1017D;ENSP00000350195:E1017D|.	ENSP00000350195:E1017D|.	E|R	-|-	3|2	2|0	MAP3K6|MAP3K6	27556819|27556819	0.000000|0.000000	0.05858|0.05858	0.157000|0.157000	0.22605|0.22605	0.163000|0.163000	0.22366|0.22366	0.184000|0.184000	0.16939|0.16939	-0.172000|-0.172000	0.10779|0.10779	-0.136000|-0.136000	0.14681|0.14681	GAG|AGA	MAP3K6	-	NULL		0.667	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27684232	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	0.091	G
MEOX2	4223	genome.wustl.edu	37	7	15725798	15725800	+	In_Frame_Del	DEL	TGG	TGG	-	rs113582077	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:15725798_15725800delTGG	ENST00000262041.5	-	1	637_639	c.228_230delCCA	c.(226-231)caccat>cat	p.76_77HH>H	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	76	Poly-His.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.H80delH(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		atggtggtgatggtggtggtggt	0.611																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												1	Deletion - In frame(1)	stomach(1)																																								SO:0001651	inframe_deletion	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.228_230delCCA	7.37:g.15725807_15725809delTGG	ENSP00000262041:p.His80del	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8I7|O75263|Q9UPL6	In_Frame_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.H80in_frame_del	ENST00000262041.5	37	c.230_228	CCDS34605.1	7																																																																																			MEOX2	-	NULL		0.611	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	TGG	NM_005924		15725800	-1	no_errors	ENST00000262041	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
MRPL3	11222	genome.wustl.edu	37	3	131220486	131220486	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:131220486C>G	ENST00000264995.3	-	2	313	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.E83Q|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	56					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GGGACATTTTCTTCAGAAAGA	0.378																																																	0													205.0	209.0	208.0					3																	131220486		2203	4300	6503	SO:0001583	missense	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.166G>C	3.37:g.131220486C>G	ENSP00000264995:p.Glu56Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.E56Q	ENST00000264995.3	37	c.166	CCDS3071.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684135|4.684135	0.88639|0.88639	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000512877|ENST00000511168	T;T|.	0.70869|.	-0.52;-0.48|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.095625|.	0.64402|.	D|.	0.000001|.	T|T	0.72020|0.72020	0.3409|0.3409	L|L	0.55990|0.55990	1.75|1.75	0.53005|0.53005	D|D	0.999965|0.999965	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.77557|.	0.99;0.986|.	T|T	0.67530|0.67530	-0.5647|-0.5647	10|5	0.72032|.	D|.	0.01|.	-7.4537|-7.4537	18.9061|18.9061	0.92462|0.92462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;56|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	Q|T	56;83;56|70	ENSP00000264995:E56Q;ENSP00000398536:E83Q|.	ENSP00000264995:E56Q|.	E|R	-|-	1|2	0|0	MRPL3|MRPL3	132703176|132703176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.781000|5.781000	0.68964|0.68964	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAA|AGA	MRPL3	-	superfamily_Transl_elong_init/rib_B-barrel		0.378	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	C	NM_007208		131220486	-1	no_errors	ENST00000264995	ensembl	human	known	70_37	missense	SNP	1.000	G
MRPL3	11222	genome.wustl.edu	37	3	131220486	131220486	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:131220486C>G	ENST00000264995.3	-	2	313	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.E83Q|MRPL3_ENST00000506946.1_5'Flank	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	56					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GGGACATTTTCTTCAGAAAGA	0.378																																																	0													205.0	209.0	208.0					3																	131220486		2203	4300	6503	SO:0001583	missense	11222			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.166G>C	3.37:g.131220486C>G	ENSP00000264995:p.Glu56Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.E56Q	ENST00000264995.3	37	c.166	CCDS3071.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.684135|4.684135	0.88639|0.88639	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000512877|ENST00000511168	T;T|.	0.70869|.	-0.52;-0.48|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.095625|.	0.64402|.	D|.	0.000001|.	T|T	0.72020|0.72020	0.3409|0.3409	L|L	0.55990|0.55990	1.75|1.75	0.53005|0.53005	D|D	0.999965|0.999965	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.77557|.	0.99;0.986|.	T|T	0.67530|0.67530	-0.5647|-0.5647	10|5	0.72032|.	D|.	0.01|.	-7.4537|-7.4537	18.9061|18.9061	0.92462|0.92462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;56|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	Q|T	56;83;56|70	ENSP00000264995:E56Q;ENSP00000398536:E83Q|.	ENSP00000264995:E56Q|.	E|R	-|-	1|2	0|0	MRPL3|MRPL3	132703176|132703176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.781000|5.781000	0.68964|0.68964	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	GAA|AGA	MRPL3	-	superfamily_Transl_elong_init/rib_B-barrel		0.378	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	C	NM_007208		131220486	-1	no_errors	ENST00000264995	ensembl	human	known	70_37	missense	SNP	1.000	G
MS4A14	84689	genome.wustl.edu	37	11	60172024	60172024	+	Intron	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:60172024C>A	ENST00000300187.6	+	4	745				MS4A14_ENST00000531783.1_Intron|MS4A14_ENST00000395001.1_Missense_Mutation_p.F46L|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						tccaggacttcatccttctca	0.443																																																	0																																										SO:0001627	intron_variant	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.468+1490C>A	11.37:g.60172024C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.F158L	ENST00000300187.6	37	c.474	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.879110	0.00537	.	.	ENSG00000166928	ENST00000395001	.	.	.	2.01	0.655	0.17839	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35847	-0.9772	5	0.02654	T	1	.	3.8342	0.08886	0.0:0.1981:0.0:0.8019	.	.	.	.	L	46	.	ENSP00000378449:F46L	F	+	3	2	MS4A14	59928600	0.009000	0.17119	0.003000	0.11579	0.011000	0.07611	0.540000	0.23191	0.238000	0.21222	-0.474000	0.04947	TTC	MS4A14	-	NULL		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	C			60172024	+1	no_errors	ENST00000525397	ensembl	human	known	70_37	missense	SNP	0.004	A
MSRB2	22921	genome.wustl.edu	37	10	23384552	23384552	+	Silent	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:23384552C>G	ENST00000376510.3	+	1	118	c.15C>G	c.(13-15)ctC>ctG	p.L5L		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	5					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CGCGGCTCCTCTGGTTGCTCC	0.786																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)												0													2.0	5.0	4.0					10																	23384552		1411	3191	4602	SO:0001819	synonymous_variant	22921			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.15C>G	10.37:g.23384552C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB	p.L5	ENST00000376510.3	37	c.15	CCDS41495.1	10																																																																																			MSRB2	-	NULL		0.786	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB2	HGNC	protein_coding	OTTHUMT00000047205.1	C	NM_012228		23384552	+1	no_errors	ENST00000376510	ensembl	human	known	70_37	silent	SNP	0.012	G
MYH9	4627	genome.wustl.edu	37	22	36689418	36689419	+	In_Frame_Ins	INS	-	-	CCT			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:36689418_36689419insCCT	ENST00000216181.5	-	30	4281_4282	c.4051_4052insAGG	c.(4051-4053)gcc>gAGGcc	p.1350_1351insE		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTTGTGCTTGGCCTCCTCCTCC	0.653			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0																																										SO:0001652	inframe_insertion	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051dupAGG	22.37:g.36689425_36689427dupCCT	ENSP00000216181:p.Glu1350_Glu1350dup	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.1351in_frame_insE	ENST00000216181.5	37	c.4052_4051	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.653	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	NM_002473		36689419	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CCT
MYH9	4627	genome.wustl.edu	37	22	36689418	36689419	+	In_Frame_Ins	INS	-	-	CCT			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:36689418_36689419insCCT	ENST00000216181.5	-	30	4281_4282	c.4051_4052insAGG	c.(4051-4053)gcc>gAGGcc	p.1350_1351insE		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 11). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTTGTGCTTGGCCTCCTCCTCC	0.653			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0																																										SO:0001652	inframe_insertion	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4049_4051dupAGG	22.37:g.36689425_36689427dupCCT	ENSP00000216181:p.Glu1350_Glu1350dup	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.1351in_frame_insE	ENST00000216181.5	37	c.4052_4051	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.653	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	NM_002473		36689419	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	CCT
NLGN3	54413	genome.wustl.edu	37	X	70390007	70390008	+	3'UTR	INS	-	-	CA	rs35156036|rs112095862		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:70390007_70390008insCA	ENST00000358741.3	+	0	2910_2911				NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_3'UTR|NLGN3_ENST00000536169.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGAacacatgcacacacacac	0.554														734	0.194437	0.2882	0.2349	3775	,	,		12388	0.0486		0.0606	False		,,,				2504	0.0818				Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001624	3_prime_UTR_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.*61->CA	X.37:g.70390016_70390017dupCA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	INS	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-		0.554	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	NM_018977		70390008	+1	no_errors	ENST00000476589	ensembl	human	known	70_37	rna	INS	0.001:0.422	CA
NSD1	64324	genome.wustl.edu	37	5	176636673	176636673	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:176636673G>T	ENST00000439151.2	+	5	1318	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	NSD1_ENST00000347982.4_Missense_Mutation_p.V156F|NSD1_ENST00000361032.4_Missense_Mutation_p.V322F|NSD1_ENST00000354179.4_Missense_Mutation_p.V156F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	425					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAAGCCAGTGTTGGACTTGC	0.383			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													65.0	63.0	64.0					5																	176636673		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1273G>T	5.37:g.176636673G>T	ENSP00000395929:p.Val425Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.V425F	ENST00000439151.2	37	c.1273	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653155	0.67472	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96554	-3.92;-3.96;-3.92;-4.05	5.32	5.32	0.75619	.	0.000000	0.53938	D	0.000047	D	0.96620	0.8897	L	0.29908	0.895	0.39576	D	0.969354	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.996	D	0.98134	1.0432	10	0.87932	D	0	.	16.7769	0.85553	0.0:0.0:1.0:0.0	.	156;322;425	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	156;156;425;156;322	ENSP00000346111:V156F;ENSP00000395929:V425F;ENSP00000343209:V156F;ENSP00000354310:V322F	ENSP00000343209:V156F	V	+	1	0	NSD1	176569279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.485000	0.83878	0.591000	0.81541	GTT	NSD1	-	NULL		0.383	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636673	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	T
OBP2A	29991	genome.wustl.edu	37	9	138439087	138439087	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr9:138439087C>A	ENST00000539850.1	+	3	296	c.270C>A	c.(268-270)ttC>ttA	p.F90L	OBP2A_ENST00000340780.3_Missense_Mutation_p.F90L|OBP2A_ENST00000342114.4_Missense_Mutation_p.Q46K|OBP2A_ENST00000371776.1_Missense_Mutation_p.F90L			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	90				F -> Y (in Ref. 1; CAB71326). {ECO:0000305}.	response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGGCAAATTCAGCGCCTGTG	0.642																																																	0													80.0	73.0	75.0					9																	138439087		2203	4300	6503	SO:0001583	missense	29991			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.270C>A	9.37:g.138439087C>A	ENSP00000441028:p.Phe90Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.F90L	ENST00000539850.1	37	c.270	CCDS6992.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.79|13.79	2.341460|2.341460	0.41498|0.41498	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850|ENST00000342114	T;T;T|T	0.14391|0.08193	2.51;3.2;3.2|3.12	2.55|2.55	2.55|2.55	0.30701|0.30701	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.182885|.	0.26677|.	N|.	0.023079|.	T|T	0.11495|0.11495	0.0280|0.0280	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P;B|D	0.42757|0.55172	0.789;0.064|0.97	P;B|P	0.49451|0.53146	0.611;0.122|0.719	T|T	0.20371|0.20371	-1.0277|-1.0277	10|9	0.72032|0.29301	D|T	0.01|0.29	-47.8449|-47.8449	8.7873|8.7873	0.34830|0.34830	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	90;90|46	Q5T8A5;Q9NY56|Q5T8A4	.;OBP2A_HUMAN|.	L|K	90|46	ENSP00000342097:F90L;ENSP00000360841:F90L;ENSP00000441028:F90L|ENSP00000340950:Q46K	ENSP00000342097:F90L|ENSP00000340950:Q46K	F|Q	+|+	3|1	2|0	OBP2A|OBP2A	137578908|137578908	0.003000|0.003000	0.15002|0.15002	0.005000|0.005000	0.12908|0.12908	0.006000|0.006000	0.05464|0.05464	0.712000|0.712000	0.25779|0.25779	1.732000|1.732000	0.51606|0.51606	0.451000|0.451000	0.29950|0.29950	TTC|CAG	OBP2A	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland		0.642	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	C	NM_014582		138439087	+1	no_errors	ENST00000340780	ensembl	human	known	70_37	missense	SNP	0.006	A
OPA1	4976	genome.wustl.edu	37	3	193337406	193337406	+	Intron	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:193337406C>G	ENST00000392438.3	+	5	858				OPA1_ENST00000361828.2_Intron|OPA1_ENST00000361150.2_Intron|OPA1_ENST00000361908.3_Intron|OPA1-AS1_ENST00000433105.1_RNA|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000487986.1_Intron|OPA1_ENST00000361715.2_Intron|OPA1_ENST00000361510.2_Intron	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTTTCTGAGTCTTCACTTTTT	0.249																																																	0																																										SO:0001627	intron_variant	100873941			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.624+681C>G	3.37:g.193337406C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNW4	RNA	SNP	-	NULL	ENST00000392438.3	37	NULL	CCDS43186.1	3																																																																																			OPA1-AS1	-	-		0.249	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1-AS1	HGNC	protein_coding	OTTHUMT00000313812.2	C	NM_130837		193337406	-1	no_errors	ENST00000433105	ensembl	human	known	70_37	rna	SNP	0.000	G
PCDHA11	56138	genome.wustl.edu	37	5	140249108	140249108	+	Silent	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:140249108G>T	ENST00000398640.2	+	1	420	c.420G>T	c.(418-420)ctG>ctT	p.L140L	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	140					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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAAAGCTGCTGATTGCGG	0.502																																																	0													100.0	115.0	110.0					5																	140249108		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.420G>T	5.37:g.140249108G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L140	ENST00000398640.2	37	c.420	CCDS47284.1	5																																																																																			PCDHA11	-	superfamily_Cadherin-like		0.502	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249108	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.336	T
PCDHB12	56124	genome.wustl.edu	37	5	140589682	140589682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:140589682C>A	ENST00000239450.2	+	1	1392	c.1203C>A	c.(1201-1203)taC>taA	p.Y401*	PCDHB12_ENST00000541609.1_Nonsense_Mutation_p.Y64*	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATTACTACACTTTGGAAA	0.502																																																	0													67.0	69.0	68.0					5																	140589682		2203	4300	6503	SO:0001587	stop_gained	56124			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1203C>A	5.37:g.140589682C>A	ENSP00000239450:p.Tyr401*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDU1	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y401*	ENST00000239450.2	37	c.1203	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888228	0.72524	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	.	.	.	3.87	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0514	0.42219	0.0:0.8443:0.0:0.1557	.	.	.	.	X	64;401;21	.	ENSP00000239450:Y401X	Y	+	3	2	PCDHB12	140569866	0.000000	0.05858	0.859000	0.33776	0.429000	0.31625	-0.357000	0.07651	1.864000	0.54056	0.491000	0.48974	TAC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140589682	+1	no_errors	ENST00000239450	ensembl	human	known	70_37	nonsense	SNP	0.650	A
PDZRN4	29951	genome.wustl.edu	37	12	41582515	41582515	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:41582515C>T	ENST00000402685.2	+	1	266	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	86							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCGCGCCCGCGGCTGCGGCC	0.741																																																	0													5.0	5.0	5.0					12																	41582515		1127	2923	4050	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.258C>T	12.37:g.41582515C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R86	ENST00000402685.2	37	c.258	CCDS53777.1	12																																																																																			PDZRN4	-	superfamily_TRAF-like		0.741	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	C	NM_013377		41582515	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	silent	SNP	1.000	T
PDZRN4	29951	genome.wustl.edu	37	12	41582515	41582515	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:41582515C>T	ENST00000402685.2	+	1	266	c.258C>T	c.(256-258)cgC>cgT	p.R86R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	86							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCGCGCCCGCGGCTGCGGCC	0.741																																																	0													5.0	5.0	5.0					12																	41582515		1127	2923	4050	SO:0001819	synonymous_variant	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.258C>T	12.37:g.41582515C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R86	ENST00000402685.2	37	c.258	CCDS53777.1	12																																																																																			PDZRN4	-	superfamily_TRAF-like		0.741	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	C	NM_013377		41582515	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	silent	SNP	1.000	T
PHLDB1	23187	genome.wustl.edu	37	11	118478396	118478397	+	Intron	INS	-	-	C	rs367782566|rs376275711|rs147562993		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:118478396_118478397insC	ENST00000361417.2	+	1	233				PHLDB1_ENST00000356063.5_5'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTGTCTCCCTGCCCCCCCCCCA	0.658																																																	0																																										SO:0001627	intron_variant	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.-179+1009->C	11.37:g.118478406_118478406dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	RNA	INS	-	NULL	ENST00000361417.2	37	NULL	CCDS8401.1	11																																																																																			PHLDB1	-	-		0.658	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	NM_015157		118478397	+1	no_errors	ENST00000530708	ensembl	human	known	70_37	rna	INS	0.000:0.004	C
PLCB2	5330	genome.wustl.edu	37	15	40592974	40592975	+	Intron	INS	-	-	C	rs113954811		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:40592974_40592975insC	ENST00000260402.3	-	7	832				PLCB2_ENST00000456256.2_Intron|PLCB2_ENST00000543785.2_3'UTR|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Intron	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTGCATTCCTTCCCCCCCCAAA	0.396																																																	0																																										SO:0001627	intron_variant	100874186				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.582+1182->G	15.37:g.40592982_40592982dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J2|B9EGH5	RNA	INS	-	NULL	ENST00000260402.3	37	NULL	CCDS42020.1	15																																																																																			PLCB2-AS1	-	-		0.396	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2-AS1	HGNC	protein_coding	OTTHUMT00000418430.1	-			40592975	+1	no_errors	ENST00000559520	ensembl	human	known	70_37	rna	INS	0.000:0.000	C
POLR3F	10621	genome.wustl.edu	37	20	18464304	18464304	+	3'UTR	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:18464304C>T	ENST00000377603.4	+	0	1433				POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						AAGCAAACTTCACAATAATGG	0.294																																					GBM(69;898 1468 19907 52011)												0																																										SO:0001624	3_prime_UTR_variant	10621			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.*102C>T	20.37:g.18464304C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C7|O15319	RNA	SNP	-	NULL	ENST00000377603.4	37	NULL	CCDS13135.1	20																																																																																			POLR3F	-	-		0.294	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	C	NM_006466		18464304	+1	no_errors	ENST00000462997	ensembl	human	known	70_37	rna	SNP	1.000	T
POTEE	445582	genome.wustl.edu	37	2	132022031	132022031	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:132022031C>T	ENST00000356920.5	+	15	3097	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	1001	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTGTCTGGCGGCACCACCA	0.537																																																	0													1.0	1.0	1.0					2																	132022031		335	417	752	SO:0001819	synonymous_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.3003C>T	2.37:g.132022031C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G1001	ENST00000356920.5	37	c.3003	CCDS46414.1	2																																																																																			POTEE	-	pfam_Actin-like,smart_Actin-like		0.537	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Uniprot_genename	protein_coding		C	NM_001083538		132022031	+1	no_errors	ENST00000356920	ensembl	human	known	70_37	silent	SNP	1.000	T
PRELID2	153768	genome.wustl.edu	37	5	145133734	145133734	+	Intron	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:145133734C>A	ENST00000510594.1	-	2	160							Q8N945	PRLD2_HUMAN	PRELI domain containing 2						phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ctacctgactcagatgaggtg	0.458																																																	0																																										SO:0001627	intron_variant	153768			AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000510594.1:c.392+10759G>T	5.37:g.145133734C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA01|Q96EQ3	RNA	SNP	-	NULL	ENST00000510594.1	37	NULL		5																																																																																			PRELID2	-	-		0.458	PRELID2-005	KNOWN	basic	processed_transcript	PRELID2	HGNC	protein_coding	OTTHUMT00000373285.1	C	NM_182960		145133734	-1	no_errors	ENST00000515161	ensembl	human	putative	70_37	rna	SNP	0.001	A
PRRC2B	84726	genome.wustl.edu	37	9	134366255	134366255	+	Intron	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr9:134366255C>G	ENST00000357304.4	+	28	6280				PRRC2B_ENST00000458550.1_Intron|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000372249.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTACTTCTGACTTTCCTCACT	0.527																																																	0																																										SO:0001627	intron_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6226-557C>G	9.37:g.134366255C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	RNA	SNP	-	NULL	ENST00000357304.4	37	NULL	CCDS48044.1	9																																																																																			PRRC2B	-	-		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134366255	+1	no_errors	ENST00000465931	ensembl	human	known	70_37	rna	SNP	0.001	G
PSG8	440533	genome.wustl.edu	37	19	43348532	43348532	+	Intron	SNP	A	A	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:43348532A>G	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTGTCATGGATTTGGAGCTT	0.448																																																	0																																										SO:0001627	intron_variant	653492			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+11175T>C	19.37:g.43348532A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000401467.2	37	NULL		19																																																																																			PSG10P	-	-		0.448	PSG8-009	PUTATIVE	basic	protein_coding	PSG10P	HGNC	protein_coding	OTTHUMT00000464525.1	A			43348532	-1	no_errors	ENST00000597171	ensembl	human	known	70_37	rna	SNP	0.001	G
PSG8	440533	genome.wustl.edu	37	19	43348532	43348532	+	Intron	SNP	A	A	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:43348532A>G	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTGTCATGGATTTGGAGCTT	0.448																																																	0																																										SO:0001627	intron_variant	653492			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+11175T>C	19.37:g.43348532A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000401467.2	37	NULL		19																																																																																			PSG10P	-	-		0.448	PSG8-009	PUTATIVE	basic	protein_coding	PSG10P	HGNC	protein_coding	OTTHUMT00000464525.1	A			43348532	-1	no_errors	ENST00000597171	ensembl	human	known	70_37	rna	SNP	0.001	G
RHOBTB3	22836	genome.wustl.edu	37	5	95067706	95067706	+	Missense_Mutation	SNP	C	C	T	rs61749615		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:95067706C>T	ENST00000379982.3	+	2	654	c.146C>T	c.(145-147)aCg>aTg	p.T49M	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.T49M	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	49	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCGGCCAGCACGGTCGCGCGT	0.632																																																	0													70.0	60.0	63.0					5																	95067706		2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.146C>T	5.37:g.95067706C>T	ENSP00000369318:p.Thr49Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T49M	ENST00000379982.3	37	c.146	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621935	0.66787	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.64803	1.47;1.43;-0.12	4.86	4.86	0.63082	.	0.419325	0.24289	N	0.039839	T	0.43743	0.1261	N	0.08118	0	0.80722	D	1	P;P	0.45348	0.66;0.856	B;B	0.44044	0.213;0.439	T	0.40739	-0.9547	10	0.33940	T	0.23	-4.2856	11.0432	0.47844	0.1856:0.8144:0.0:0.0	rs61749615	49;49	O94955;D6RG10	RHBT3_HUMAN;.	M	55;49;49	ENSP00000423688:T55M;ENSP00000426479:T49M;ENSP00000369318:T49M	ENSP00000369318:T49M	T	+	2	0	RHOBTB3	95093462	0.039000	0.19947	1.000000	0.80357	0.989000	0.77384	3.236000	0.51336	2.394000	0.81467	0.557000	0.71058	ACG	RHOBTB3	-	NULL		0.632	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067706	+1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	0.999	T
RHOBTB3	22836	genome.wustl.edu	37	5	95067751	95067751	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:95067751G>T	ENST00000379982.3	+	2	699	c.191G>T	c.(190-192)gGg>gTg	p.G64V	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.G64V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	64	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGTGCGTTTGGGAATGTCAAG	0.592																																																	0													81.0	67.0	72.0					5																	95067751		2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.191G>T	5.37:g.95067751G>T	ENSP00000369318:p.Gly64Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G64V	ENST00000379982.3	37	c.191	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468749	0.63625	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.65364	0.4;0.18;-0.15	4.86	4.86	0.63082	.	0.070871	0.56097	D	0.000028	T	0.70378	0.3217	L	0.40543	1.245	0.80722	D	1	P;D	0.89917	0.713;1.0	P;D	0.97110	0.662;1.0	T	0.66316	-0.5954	10	0.26408	T	0.33	-9.5872	15.2512	0.73549	0.0:0.0:1.0:0.0	.	64;64	O94955;D6RG10	RHBT3_HUMAN;.	V	70;64;64	ENSP00000423688:G70V;ENSP00000426479:G64V;ENSP00000369318:G64V	ENSP00000369318:G64V	G	+	2	0	RHOBTB3	95093507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.394000	0.81467	0.557000	0.71058	GGG	RHOBTB3	-	NULL		0.592	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	G	NM_014899		95067751	+1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	1.000	T
ROBO1	6091	genome.wustl.edu	37	3	78987932	78987932	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:78987932C>G	ENST00000464233.1	-	4	431	c.318G>C	c.(316-318)gaG>gaC	p.E106D	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000495273.1_Missense_Mutation_p.E67D|ROBO1_ENST00000467549.1_Missense_Mutation_p.E67D|ROBO1_ENST00000436010.2_Missense_Mutation_p.E67D	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	106	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCCACTCTCTCTCCCCCTT	0.478																																																	0													147.0	137.0	140.0					3																	78987932		1932	4132	6064	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.318G>C	3.37:g.78987932C>G	ENSP00000420321:p.Glu106Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E106D	ENST00000464233.1	37	c.318	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295562	0.40594	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.53	2.33	0.28932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053446	0.64402	D	0.000001	T	0.47469	0.1447	L	0.31526	0.94	0.38943	D	0.958189	B;B;B;B	0.12630	0.006;0.001;0.001;0.001	B;B;B;B	0.26202	0.067;0.006;0.067;0.024	T	0.32693	-0.9897	9	.	.	.	.	3.7488	0.08558	0.0:0.3154:0.4047:0.28	.	106;67;67;67	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	D	67;67;106;67;67;106	ENSP00000406043:E67D;ENSP00000420321:E106D;ENSP00000420637:E67D;ENSP00000417992:E67D	.	E	-	3	2	ROBO1	79070622	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.226000	0.32563	1.316000	0.45131	0.462000	0.41574	GAG	ROBO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.478	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78987932	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G
ROBO1	6091	genome.wustl.edu	37	3	78987932	78987932	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:78987932C>G	ENST00000464233.1	-	4	431	c.318G>C	c.(316-318)gaG>gaC	p.E106D	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000495273.1_Missense_Mutation_p.E67D|ROBO1_ENST00000467549.1_Missense_Mutation_p.E67D|ROBO1_ENST00000436010.2_Missense_Mutation_p.E67D	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	106	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTCCACTCTCTCTCCCCCTT	0.478																																																	0													147.0	137.0	140.0					3																	78987932		1932	4132	6064	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.318G>C	3.37:g.78987932C>G	ENSP00000420321:p.Glu106Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E106D	ENST00000464233.1	37	c.318	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295562	0.40594	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.53	2.33	0.28932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053446	0.64402	D	0.000001	T	0.47469	0.1447	L	0.31526	0.94	0.38943	D	0.958189	B;B;B;B	0.12630	0.006;0.001;0.001;0.001	B;B;B;B	0.26202	0.067;0.006;0.067;0.024	T	0.32693	-0.9897	9	.	.	.	.	3.7488	0.08558	0.0:0.3154:0.4047:0.28	.	106;67;67;67	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	D	67;67;106;67;67;106	ENSP00000406043:E67D;ENSP00000420321:E106D;ENSP00000420637:E67D;ENSP00000417992:E67D	.	E	-	3	2	ROBO1	79070622	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.226000	0.32563	1.316000	0.45131	0.462000	0.41574	GAG	ROBO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.478	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	C	NM_002941		78987932	-1	no_errors	ENST00000464233	ensembl	human	known	70_37	missense	SNP	1.000	G
SGSM1	129049	genome.wustl.edu	37	22	25320198	25320198	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:25320198G>A	ENST00000400359.4	+	26	3411	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	SGSM1_ENST00000400358.4_Missense_Mutation_p.R1080Q	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1135						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGCTGGCGCGGGACCTCGTG	0.562																																																	0													50.0	57.0	55.0					22																	25320198		2042	4200	6242	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3404G>A	22.37:g.25320198G>A	ENSP00000383212:p.Arg1135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R1135Q	ENST00000400359.4	37	c.3404	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	25.2	4.615319	0.87359	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.23552	1.9;1.9	4.74	4.74	0.60224	Rab-GAP/TBC domain (1);	0.056221	0.64402	D	0.000001	T	0.24624	0.0597	M	0.77820	2.39	0.53005	D	0.999963	B;P;P;P	0.42827	0.034;0.791;0.76;0.775	B;B;B;B	0.27380	0.021;0.079;0.074;0.067	T	0.21552	-1.0242	10	0.87932	D	0	-44.0832	10.8223	0.46612	0.0859:0.0:0.9141:0.0	.	1080;1135;1152;1135	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	Q	1135;1080;1135	ENSP00000383211:R1080Q;ENSP00000383212:R1135Q	ENSP00000383211:R1080Q	R	+	2	0	SGSM1	23650198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.773000	0.85462	2.622000	0.88805	0.563000	0.77884	CGG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25320198	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	1.000	A
SGSM1	129049	genome.wustl.edu	37	22	25320198	25320198	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr22:25320198G>A	ENST00000400359.4	+	26	3411	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	SGSM1_ENST00000400358.4_Missense_Mutation_p.R1080Q	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1135						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGCTGGCGCGGGACCTCGTG	0.562																																																	0													50.0	57.0	55.0					22																	25320198		2042	4200	6242	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3404G>A	22.37:g.25320198G>A	ENSP00000383212:p.Arg1135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R1135Q	ENST00000400359.4	37	c.3404	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	25.2	4.615319	0.87359	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.23552	1.9;1.9	4.74	4.74	0.60224	Rab-GAP/TBC domain (1);	0.056221	0.64402	D	0.000001	T	0.24624	0.0597	M	0.77820	2.39	0.53005	D	0.999963	B;P;P;P	0.42827	0.034;0.791;0.76;0.775	B;B;B;B	0.27380	0.021;0.079;0.074;0.067	T	0.21552	-1.0242	10	0.87932	D	0	-44.0832	10.8223	0.46612	0.0859:0.0:0.9141:0.0	.	1080;1135;1152;1135	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	Q	1135;1080;1135	ENSP00000383211:R1080Q;ENSP00000383212:R1135Q	ENSP00000383211:R1080Q	R	+	2	0	SGSM1	23650198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.773000	0.85462	2.622000	0.88805	0.563000	0.77884	CGG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25320198	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	1.000	A
SNTG2	54221	genome.wustl.edu	37	2	1271203	1271203	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:1271203G>A	ENST00000308624.5	+	14	1273	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTTGACTTTGAGGACCAGAG	0.522																																																	0													61.0	58.0	59.0					2																	1271203		1924	4135	6059	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1144G>A	2.37:g.1271203G>A	ENSP00000311837:p.Glu382Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E382K	ENST00000308624.5	37	c.1144	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	3.634	-0.074865	0.07184	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68903	1.17;-0.36	4.61	4.61	0.57282	Pleckstrin homology domain (1);	0.260617	0.38720	N	0.001594	T	0.56031	0.1958	L	0.50919	1.6	0.38094	D	0.937054	P;B	0.39022	0.655;0.278	B;B	0.35039	0.194;0.112	T	0.60475	-0.7256	10	0.05833	T	0.94	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	255;382	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	K	382;255	ENSP00000311837:E382K;ENSP00000385020:E255K	ENSP00000311837:E382K	E	+	1	0	SNTG2	1253784	1.000000	0.71417	0.030000	0.17652	0.799000	0.45148	3.880000	0.56145	2.076000	0.62316	0.655000	0.94253	GAG	SNTG2	-	NULL		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271203	+1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.926	A
SNTG2	54221	genome.wustl.edu	37	2	1271203	1271203	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:1271203G>A	ENST00000308624.5	+	14	1273	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTTGACTTTGAGGACCAGAG	0.522																																																	0													61.0	58.0	59.0					2																	1271203		1924	4135	6059	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1144G>A	2.37:g.1271203G>A	ENSP00000311837:p.Glu382Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E382K	ENST00000308624.5	37	c.1144	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	3.634	-0.074865	0.07184	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68903	1.17;-0.36	4.61	4.61	0.57282	Pleckstrin homology domain (1);	0.260617	0.38720	N	0.001594	T	0.56031	0.1958	L	0.50919	1.6	0.38094	D	0.937054	P;B	0.39022	0.655;0.278	B;B	0.35039	0.194;0.112	T	0.60475	-0.7256	10	0.05833	T	0.94	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	255;382	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	K	382;255	ENSP00000311837:E382K;ENSP00000385020:E255K	ENSP00000311837:E382K	E	+	1	0	SNTG2	1253784	1.000000	0.71417	0.030000	0.17652	0.799000	0.45148	3.880000	0.56145	2.076000	0.62316	0.655000	0.94253	GAG	SNTG2	-	NULL		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	G	NM_018968		1271203	+1	no_errors	ENST00000308624	ensembl	human	known	70_37	missense	SNP	0.926	A
SRRT	51593	genome.wustl.edu	37	7	100482420	100482420	+	Silent	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:100482420G>A	ENST00000347433.4	+	8	1160	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SRRT_ENST00000432932.1_Silent_p.K334K|SRRT_ENST00000388793.4_Silent_p.K334K|SRRT_ENST00000457580.2_Silent_p.K334K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	334	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGGGGACAAGGAAGAGAAGA	0.512																																																	0													79.0	85.0	83.0					7																	100482420		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1002G>A	7.37:g.100482420G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.K334	ENST00000347433.4	37	c.1002	CCDS34709.1	7																																																																																			SRRT	-	NULL		0.512	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100482420	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	silent	SNP	1.000	A
TAF7L	54457	genome.wustl.edu	37	X	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	rs145455495		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)												0								G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148.0	146.0	147.0		154,412	3.8	0.0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.R138C	ENST00000372907.3	37	c.412	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC	TAF7L	-	pfam_TAFII55_prot_cons_reg		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	G			100538563	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.910	A
TAF7L	54457	genome.wustl.edu	37	X	100538563	100538563	+	Missense_Mutation	SNP	G	G	A	rs145455495		TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chrX:100538563G>A	ENST00000372907.3	-	4	423	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	138					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTGCATGGCGCCCATCAGCT	0.398																																					Ovarian(104;431 1530 3210 15406 18594)												0								G	CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	148.0	146.0	147.0		154,412	3.8	0.0	X	dbSNP_134	147	0,6728		0,0,2428,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	180,180	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging	52/377,138/463	100538563	1,10562	2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.412C>T	X.37:g.100538563G>A	ENSP00000361998:p.Arg138Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.R138C	ENST00000372907.3	37	c.412	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	G	12.36	1.916048	0.33815	2.61E-4	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.38560	3.65;1.13;1.13;3.65	5.66	3.85	0.44370	TAFII55 protein, conserved region (1);	0.780170	0.11273	N	0.581216	T	0.68384	0.2995	M	0.90595	3.13	0.53005	D	0.999963	D;P	0.89917	1.0;0.647	D;B	0.79784	0.993;0.111	T	0.63373	-0.6652	10	0.62326	D	0.03	-1.6297	8.3642	0.32376	0.08:0.0:0.7662:0.1538	.	138;52	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	138;52;52;52	ENSP00000361998:R138C;ENSP00000361996:R52C;ENSP00000320283:R52C;ENSP00000349235:R52C	ENSP00000320283:R52C	R	-	1	0	TAF7L	100425219	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	4.850000	0.62889	0.519000	0.28406	0.594000	0.82650	CGC	TAF7L	-	pfam_TAFII55_prot_cons_reg		0.398	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	G			100538563	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.910	A
TDRD1	56165	genome.wustl.edu	37	10	115985841	115985841	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr10:115985841G>A	ENST00000369280.1	+	22	3501	c.3041G>A	c.(3040-3042)gGg>gAg	p.G1014E	TDRD1_ENST00000422662.1_Missense_Mutation_p.G618E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G1014E|TDRD1_ENST00000251864.2_Missense_Mutation_p.G1014E|TDRD1_ENST00000369281.2_Missense_Mutation_p.G900E			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1014	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTTGTTCTGGGGACATCAGAC	0.448																																																	0													168.0	142.0	151.0					10																	115985841		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3041G>A	10.37:g.115985841G>A	ENSP00000358286:p.Gly1014Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.G1014E	ENST00000369280.1	37	c.3041		10	.	.	.	.	.	.	.	.	.	.	G	0.239	-1.014910	0.02078	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	6.01	-2.71	0.05986	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.704477	0.14697	N	0.303777	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.19073	0.001;0.026;0.033;0.021;0.005	B;B;B;B;B	0.20577	0.008;0.022;0.03;0.013;0.014	T	0.44937	-0.9295	10	0.02654	T	1	-0.2265	7.5523	0.27804	0.5839:0.1211:0.295:0.0	.	618;1014;900;1014;900	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	E	1014;1014;900;618;1014	ENSP00000358288:G1014E;ENSP00000251864:G1014E;ENSP00000358287:G900E;ENSP00000402794:G618E;ENSP00000358286:G1014E	ENSP00000251864:G1014E	G	+	2	0	TDRD1	115975831	0.728000	0.28080	0.067000	0.19924	0.662000	0.39071	0.555000	0.23422	-0.309000	0.08779	-0.355000	0.07637	GGG	TDRD1	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.448	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115985841	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.015	A
DNAJC14	85406	genome.wustl.edu	37	12	56226768	56226768	+	5'Flank	SNP	G	G	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:56226768G>A	ENST00000357606.3	-	0	0				TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14						protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGACAGTGACGTTTCTCTCCG	0.567																																																	0																																										SO:0001631	upstream_gene_variant	440104			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3			12.37:g.56226768G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	RNA	SNP	-	NULL	ENST00000357606.3	37	NULL	CCDS8894.1	12																																																																																			TMEM198B	-	-		0.567	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM198B	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56226768	+1	no_errors	ENST00000471276	ensembl	human	known	70_37	rna	SNP	1.000	A
TRA2A	29896	genome.wustl.edu	37	7	23552514	23552514	+	Splice_Site	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:23552514T>C	ENST00000297071.4	-	4	740	c.524A>G	c.(523-525)gAg>gGg	p.E175G	TRA2A_ENST00000538367.1_Splice_Site_p.E74G|TRA2A_ENST00000392502.4_Splice_Site_p.E74G|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	175	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CAAATTTACCTCCTTTGAGTC	0.348																																					Pancreas(121;2137 2973 46590)												0													72.0	69.0	70.0					7																	23552514		2203	4300	6503	SO:0001630	splice_region_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.525+1A>G	7.37:g.23552514T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E175G	ENST00000297071.4	37	c.524	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213156	0.58452	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.17213	2.29;2.29;2.29	5.27	5.27	0.74061	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.52011	1.625	0.80722	D	1	B	0.15141	0.012	B	0.26094	0.066	T	0.03051	-1.1078	10	0.27785	T	0.31	-5.0144	15.228	0.73364	0.0:0.0:0.0:1.0	.	175	Q13595	TRA2A_HUMAN	G	175;74;74	ENSP00000297071:E175G;ENSP00000376290:E74G;ENSP00000441116:E74G	ENSP00000297071:E175G	E	-	2	0	TRA2A	23519039	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.994000	0.88315	1.999000	0.58509	0.254000	0.18369	GAG	TRA2A	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.348	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	T	NM_013293	Missense_Mutation	23552514	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	C
TRA2A	29896	genome.wustl.edu	37	7	23552514	23552514	+	Splice_Site	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr7:23552514T>C	ENST00000297071.4	-	4	740	c.524A>G	c.(523-525)gAg>gGg	p.E175G	TRA2A_ENST00000538367.1_Splice_Site_p.E74G|TRA2A_ENST00000392502.4_Splice_Site_p.E74G|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	175	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CAAATTTACCTCCTTTGAGTC	0.348																																					Pancreas(121;2137 2973 46590)												0													72.0	69.0	70.0					7																	23552514		2203	4300	6503	SO:0001630	splice_region_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.525+1A>G	7.37:g.23552514T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E175G	ENST00000297071.4	37	c.524	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213156	0.58452	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.17213	2.29;2.29;2.29	5.27	5.27	0.74061	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.52011	1.625	0.80722	D	1	B	0.15141	0.012	B	0.26094	0.066	T	0.03051	-1.1078	10	0.27785	T	0.31	-5.0144	15.228	0.73364	0.0:0.0:0.0:1.0	.	175	Q13595	TRA2A_HUMAN	G	175;74;74	ENSP00000297071:E175G;ENSP00000376290:E74G;ENSP00000441116:E74G	ENSP00000297071:E175G	E	-	2	0	TRA2A	23519039	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.994000	0.88315	1.999000	0.58509	0.254000	0.18369	GAG	TRA2A	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.348	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	T	NM_013293	Missense_Mutation	23552514	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	C
TRAPPC9	83696	genome.wustl.edu	37	8	140893937	140893937	+	Intron	SNP	C	C	G	rs369559440|rs144350219	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:140893937C>G	ENST00000438773.2	-	21	3189				TRAPPC9_ENST00000389327.3_Intron|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389328.4_Intron	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGAAAAAAACAGCTGGCCTA	0.433													-|||	1028	0.205272	0.3109	0.0807	5008	,	,		17541	0.2579		0.1272	False		,,,				2504	0.1769																0																																										SO:0001627	intron_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3055+4185G>C	8.37:g.140893937C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	RNA	SNP	-	NULL	ENST00000438773.2	37	NULL	CCDS55278.1	8																																																																																			TRAPPC9	-	-		0.433	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	C	NM_031466		140893937	-1	no_errors	ENST00000522504	ensembl	human	putative	70_37	rna	SNP	0.129	G
UBE4A	9354	genome.wustl.edu	37	11	118267042	118267042	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr11:118267042C>A	ENST00000431736.2	+	20	3181	c.3109C>A	c.(3109-3111)Ccc>Acc	p.P1037T	RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000252108.3_Missense_Mutation_p.P1030T|UBE4A_ENST00000545354.1_Missense_Mutation_p.P502T					ubiquitination factor E4A									p.P1037T(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCAAACAGATCCCTTTAACCG	0.448																																																	2	Substitution - Missense(2)	liver(2)											100.0	96.0	97.0					11																	118267042		2200	4296	6496	SO:0001583	missense	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3109C>A	11.37:g.118267042C>A	ENSP00000387362:p.Pro1037Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.P1037T	ENST00000431736.2	37	c.3109	CCDS8396.1	11	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845766	0.91197	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	D;D	0.97791	-4.5;-4.54	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97900	1.0302	10	0.87932	D	0	-9.8587	18.9755	0.92735	0.0:1.0:0.0:0.0	.	1030;1037	Q14139;Q14139-2	UBE4A_HUMAN;.	T	1030;1037;502	ENSP00000252108:P1030T;ENSP00000387362:P1037T	ENSP00000252108:P1030T	P	+	1	0	UBE4A	117772252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.624000	0.83124	2.458000	0.83093	0.650000	0.86243	CCC	UBE4A	-	pfam_Ubox_domain,smart_Ubox_domain		0.448	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	C	NM_004788		118267042	+1	no_errors	ENST00000431736	ensembl	human	known	70_37	missense	SNP	1.000	A
UNG	7374	genome.wustl.edu	37	12	109537062	109537062	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:109537062C>T	ENST00000242576.2	+	3	514	c.408C>T	c.(406-408)acC>acT	p.T136T	UNG_ENST00000336865.2_Silent_p.T127T	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGTCTTCACCTGGACCCAGA	0.358								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													83.0	81.0	82.0					12																	109537062		2203	4300	6503	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.408C>T	12.37:g.109537062C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.T136	ENST00000242576.2	37	c.408	CCDS9124.1	12																																																																																			UNG	-	superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.358	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109537062	+1	no_errors	ENST00000242576	ensembl	human	known	70_37	silent	SNP	0.304	T
UNG	7374	genome.wustl.edu	37	12	109537062	109537062	+	Silent	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr12:109537062C>T	ENST00000242576.2	+	3	514	c.408C>T	c.(406-408)acC>acT	p.T136T	UNG_ENST00000336865.2_Silent_p.T127T	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGTCTTCACCTGGACCCAGA	0.358								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													83.0	81.0	82.0					12																	109537062		2203	4300	6503	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.408C>T	12.37:g.109537062C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.T136	ENST00000242576.2	37	c.408	CCDS9124.1	12																																																																																			UNG	-	superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.358	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109537062	+1	no_errors	ENST00000242576	ensembl	human	known	70_37	silent	SNP	0.304	T
WASH3P	374666	genome.wustl.edu	37	15	102516413	102516413	+	RNA	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr15:102516413C>T	ENST00000557932.1	+	0	1361				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CATCCCTCCTCTGCCGCCACC	0.657																																																	0																																												374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516413C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-		0.657	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	C	NM_199163		102516413	+1	no_errors	ENST00000557932	ensembl	human	known	70_37	rna	SNP	0.999	T
WDR17	116966	genome.wustl.edu	37	4	177046324	177046324	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:177046324C>T	ENST00000280190.4	+	6	836	c.680C>T	c.(679-681)aCg>aTg	p.T227M	WDR17_ENST00000393643.2_Missense_Mutation_p.T203M|WDR17_ENST00000507824.2_Missense_Mutation_p.T210M|WDR17_ENST00000508596.1_Missense_Mutation_p.T203M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GATCCAGTTACGGCCTTGGAA	0.363																																																	0													159.0	158.0	158.0					4																	177046324		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.680C>T	4.37:g.177046324C>T	ENSP00000280190:p.Thr227Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T227M	ENST00000280190.4	37	c.680	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300833	0.40694	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.66815	-0.23;-0.23;-0.23	5.61	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.240325	0.41823	D	0.000819	T	0.71239	0.3316	M	0.63428	1.95	0.48571	D	0.999672	D;D	0.71674	0.998;0.998	P;P	0.51355	0.667;0.667	T	0.71159	-0.4674	10	0.34782	T	0.22	-16.7059	14.6259	0.68621	0.0:0.9301:0.0:0.0699	.	203;227	E7EQX0;Q8IZU2	.;WDR17_HUMAN	M	203;203;227;210	ENSP00000422763:T203M;ENSP00000377258:T203M;ENSP00000280190:T227M	ENSP00000280190:T227M	T	+	2	0	WDR17	177283318	1.000000	0.71417	0.782000	0.31804	0.140000	0.21249	4.623000	0.61247	1.369000	0.46134	0.650000	0.86243	ACG	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046324	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	0.999	T
WDR17	116966	genome.wustl.edu	37	4	177046324	177046324	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr4:177046324C>T	ENST00000280190.4	+	6	836	c.680C>T	c.(679-681)aCg>aTg	p.T227M	WDR17_ENST00000393643.2_Missense_Mutation_p.T203M|WDR17_ENST00000507824.2_Missense_Mutation_p.T210M|WDR17_ENST00000508596.1_Missense_Mutation_p.T203M			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GATCCAGTTACGGCCTTGGAA	0.363																																																	0													159.0	158.0	158.0					4																	177046324		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.680C>T	4.37:g.177046324C>T	ENSP00000280190:p.Thr227Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T227M	ENST00000280190.4	37	c.680	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300833	0.40694	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.66815	-0.23;-0.23;-0.23	5.61	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.240325	0.41823	D	0.000819	T	0.71239	0.3316	M	0.63428	1.95	0.48571	D	0.999672	D;D	0.71674	0.998;0.998	P;P	0.51355	0.667;0.667	T	0.71159	-0.4674	10	0.34782	T	0.22	-16.7059	14.6259	0.68621	0.0:0.9301:0.0:0.0699	.	203;227	E7EQX0;Q8IZU2	.;WDR17_HUMAN	M	203;203;227;210	ENSP00000422763:T203M;ENSP00000377258:T203M;ENSP00000280190:T227M	ENSP00000280190:T227M	T	+	2	0	WDR17	177283318	1.000000	0.71417	0.782000	0.31804	0.140000	0.21249	4.623000	0.61247	1.369000	0.46134	0.650000	0.86243	ACG	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046324	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	0.999	T
WDR27	253769	genome.wustl.edu	37	6	169959695	169959695	+	5'UTR	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr6:169959695C>A	ENST00000546525.1	-	0	2232				WDR27_ENST00000333572.6_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000448612.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27							nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GAACTGAGTTCTAGTCAATAA	0.373																																																	0																																										SO:0001623	5_prime_UTR_variant	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000546525.1:c.-1279G>T	6.37:g.169959695C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLM8|C9JGV0|Q5T066	RNA	SNP	-	NULL	ENST00000546525.1	37	NULL		6																																																																																			WDR27	-	-		0.373	WDR27-013	KNOWN	basic	processed_transcript	WDR27	HGNC	protein_coding	OTTHUMT00000407335.1	C	NM_182552		169959695	-1	no_errors	ENST00000546525	ensembl	human	known	70_37	rna	SNP	0.004	A
WDR49	151790	genome.wustl.edu	37	3	167196719	167196719	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:167196719C>A	ENST00000308378.3	-	15	2346	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	WDR49_ENST00000453925.2_Missense_Mutation_p.A646S|WDR49_ENST00000476376.1_Missense_Mutation_p.A506S|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000479765.1_3'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	681										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATTGCTTGGCTTTTCGTTCA	0.313																																																	0													89.0	85.0	87.0					3																	167196719		2202	4296	6498	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.2041G>T	3.37:g.167196719C>A	ENSP00000311343:p.Ala681Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A681S	ENST00000308378.3	37	c.2041	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.312807|1.312807	0.23908|0.23908	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|T	0.54866|0.52526	0.55;1.83;0.85|0.66	5.59|5.59	2.86|2.86	0.33363|0.33363	.|.	0.343110|.	0.27270|.	N|.	0.020128|.	T|T	0.47322|0.47322	0.1439|0.1439	L|L	0.53249|0.53249	1.67|1.67	0.21147|0.21147	N|N	0.999779|0.999779	P;P|.	0.35745|.	0.518;0.518|.	B;B|.	0.30401|.	0.115;0.115|.	T|T	0.41448|0.41448	-0.9508|-0.9508	10|7	0.56958|0.62326	D|D	0.05|0.03	.|.	6.3893|6.3893	0.21577|0.21577	0.0:0.6411:0.133:0.2259|0.0:0.6411:0.133:0.2259	.|.	646;681|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	S|N	681;506;646|657	ENSP00000311343:A681S;ENSP00000420508:A506S;ENSP00000410863:A646S|ENSP00000419130:K657N	ENSP00000311343:A681S|ENSP00000419130:K657N	A|K	-|-	1|3	0|2	WDR49|WDR49	168679413|168679413	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.322000|0.322000	0.28314|0.28314	0.213000|0.213000	0.17521|0.17521	0.329000|0.329000	0.23460|0.23460	0.561000|0.561000	0.74099|0.74099	GCC|AAG	WDR49	-	NULL		0.313	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	C	NM_178824		167196719	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR49	151790	genome.wustl.edu	37	3	167196719	167196719	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:167196719C>A	ENST00000308378.3	-	15	2346	c.2041G>T	c.(2041-2043)Gcc>Tcc	p.A681S	WDR49_ENST00000453925.2_Missense_Mutation_p.A646S|WDR49_ENST00000476376.1_Missense_Mutation_p.A506S|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000479765.1_3'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	681										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATTGCTTGGCTTTTCGTTCA	0.313																																																	0													89.0	85.0	87.0					3																	167196719		2202	4296	6498	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.2041G>T	3.37:g.167196719C>A	ENSP00000311343:p.Ala681Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A681S	ENST00000308378.3	37	c.2041	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.312807|1.312807	0.23908|0.23908	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|T	0.54866|0.52526	0.55;1.83;0.85|0.66	5.59|5.59	2.86|2.86	0.33363|0.33363	.|.	0.343110|.	0.27270|.	N|.	0.020128|.	T|T	0.47322|0.47322	0.1439|0.1439	L|L	0.53249|0.53249	1.67|1.67	0.21147|0.21147	N|N	0.999779|0.999779	P;P|.	0.35745|.	0.518;0.518|.	B;B|.	0.30401|.	0.115;0.115|.	T|T	0.41448|0.41448	-0.9508|-0.9508	10|7	0.56958|0.62326	D|D	0.05|0.03	.|.	6.3893|6.3893	0.21577|0.21577	0.0:0.6411:0.133:0.2259|0.0:0.6411:0.133:0.2259	.|.	646;681|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	S|N	681;506;646|657	ENSP00000311343:A681S;ENSP00000420508:A506S;ENSP00000410863:A646S|ENSP00000419130:K657N	ENSP00000311343:A681S|ENSP00000419130:K657N	A|K	-|-	1|3	0|2	WDR49|WDR49	168679413|168679413	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.322000|0.322000	0.28314|0.28314	0.213000|0.213000	0.17521|0.17521	0.329000|0.329000	0.23460|0.23460	0.561000|0.561000	0.74099|0.74099	GCC|AAG	WDR49	-	NULL		0.313	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	C	NM_178824		167196719	-1	no_errors	ENST00000308378	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC01494	101928537	genome.wustl.edu	37	2	219764059	219764060	+	RNA	INS	-	-	T	rs150833551	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr2:219764059_219764060insT	ENST00000419511.1	-	0	2022																											ccacgaccgtctttttttttct	0.525													?|TTTTTTTTT|TTTTTTTTTT|unsure	275	0.0549121	0.174	0.0245	5008	,	,		15536	0.0198		0.002	False		,,,				2504	0.0061																0																																												80326																															2.37:g.219764068_219764068dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000419511.1	37	NULL		2																																																																																			WNT10A	-	-		0.525	AC073128.10-001	KNOWN	basic	antisense	WNT10A	HGNC	antisense	OTTHUMT00000336513.1	-			219764060	+1	no_errors	ENST00000489887	ensembl	human	putative	70_37	rna	INS	0.001:0.048	T
WWC1	23286	genome.wustl.edu	37	5	167881043	167881045	+	In_Frame_Del	DEL	GGA	GGA	-	rs116415672|rs201870717|rs114098310	byFrequency	TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr5:167881043_167881045delGGA	ENST00000265293.4	+	18	3098_3100	c.2596_2598delGGA	c.(2596-2598)ggadel	p.G866del	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_In_Frame_Del_p.G866del	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	866	Glu-rich.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ggaggaggagggagaagaggaTG	0.542														90	0.0179712	0.0666	0.0014	5008	,	,		17623	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001651	inframe_deletion	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2596_2598delGGA	5.37:g.167881043_167881045delGGA	ENSP00000265293:p.Gly866del	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	In_Frame_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.G866in_frame_del	ENST00000265293.4	37	c.2596_2598	CCDS4366.1	5																																																																																			WWC1	-	NULL		0.542	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	GGA	NM_015238		167881045	+1	no_errors	ENST00000265293	ensembl	human	known	70_37	in_frame_del	DEL	0.441:0.365:0.522	-
ZDHHC23	254887	genome.wustl.edu	37	3	113681778	113681778	+	3'UTR	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr3:113681778T>C	ENST00000330212.3	+	0	3727				ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TAAAATAACGTCCTGTGACCA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.*2198T>C	3.37:g.113681778T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN76	RNA	SNP	-	NULL	ENST00000330212.3	37	NULL	CCDS33827.1	3																																																																																			ZDHHC23	-	-		0.328	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	T	NM_173570		113681778	+1	no_errors	ENST00000488129	ensembl	human	putative	70_37	rna	SNP	0.271	C
ZFHX4	79776	genome.wustl.edu	37	8	77766275	77766275	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:77766275C>T	ENST00000521891.2	+	10	7566	c.7118C>T	c.(7117-7119)gCt>gTt	p.A2373V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2347V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2328V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2328V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2328	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGCAGCTAAAAACGCT	0.512										HNSCC(33;0.089)																																							0													122.0	119.0	120.0					8																	77766275		2012	4175	6187	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7118C>T	8.37:g.77766275C>T	ENSP00000430497:p.Ala2373Val	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2373V	ENST00000521891.2	37	c.7118	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974211	0.53720	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.69;0.69	5.02	5.02	0.67125	.	0.168778	0.27996	U	0.017001	T	0.45478	0.1344	L	0.50333	1.59	0.47214	D	0.999356	B;B;B	0.30361	0.079;0.277;0.13	B;B;B	0.29942	0.035;0.109;0.076	T	0.35724	-0.9777	10	0.31617	T	0.26	.	18.5414	0.91029	0.0:1.0:0.0:0.0	.	2328;2328;2373	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2373;2357;2328;2328;2347	ENSP00000430497:A2373V;ENSP00000399605:A2328V;ENSP00000050961:A2328V;ENSP00000430848:A2347V	ENSP00000050961:A2328V	A	+	2	0	ZFHX4	77928830	1.000000	0.71417	0.768000	0.31515	0.698000	0.40448	5.619000	0.67729	2.611000	0.88343	0.650000	0.86243	GCT	ZFHX4	-	NULL		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77766275	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.999	T
ZFHX4	79776	genome.wustl.edu	37	8	77766275	77766275	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr8:77766275C>T	ENST00000521891.2	+	10	7566	c.7118C>T	c.(7117-7119)gCt>gTt	p.A2373V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2347V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2328V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2328V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2328	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGCAGCTAAAAACGCT	0.512										HNSCC(33;0.089)																																							0													122.0	119.0	120.0					8																	77766275		2012	4175	6187	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7118C>T	8.37:g.77766275C>T	ENSP00000430497:p.Ala2373Val	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2373V	ENST00000521891.2	37	c.7118	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974211	0.53720	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.69;0.69	5.02	5.02	0.67125	.	0.168778	0.27996	U	0.017001	T	0.45478	0.1344	L	0.50333	1.59	0.47214	D	0.999356	B;B;B	0.30361	0.079;0.277;0.13	B;B;B	0.29942	0.035;0.109;0.076	T	0.35724	-0.9777	10	0.31617	T	0.26	.	18.5414	0.91029	0.0:1.0:0.0:0.0	.	2328;2328;2373	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2373;2357;2328;2328;2347	ENSP00000430497:A2373V;ENSP00000399605:A2328V;ENSP00000050961:A2328V;ENSP00000430848:A2347V	ENSP00000050961:A2328V	A	+	2	0	ZFHX4	77928830	1.000000	0.71417	0.768000	0.31515	0.698000	0.40448	5.619000	0.67729	2.611000	0.88343	0.650000	0.86243	GCT	ZFHX4	-	NULL		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77766275	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	0.999	T
ZNF334	55713	genome.wustl.edu	37	20	45130587	45130587	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:45130587T>C	ENST00000347606.4	-	5	1573	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	ZNF334_ENST00000457685.2_Missense_Mutation_p.N426S|ZNF334_ENST00000593880.1_Missense_Mutation_p.N487S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCCACATTCATTACATTCATA	0.363																																																	0													99.0	97.0	98.0					20																	45130587		2203	4299	6502	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1391A>G	20.37:g.45130587T>C	ENSP00000255129:p.Asn464Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N464S	ENST00000347606.4	37	c.1391	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	T	7.167	0.586914	0.13749	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.50277	0.75;0.75	3.45	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	N	0.16098	0.37	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.12837	0.006;0.006;0.008	T	0.19679	-1.0298	9	0.20046	T	0.44	.	4.7442	0.13029	0.0:0.3488:0.3191:0.3321	.	426;464;487	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	426;464	ENSP00000402582:N426S;ENSP00000255129:N464S	ENSP00000255129:N464S	N	-	2	0	ZNF334	44563994	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-4.884000	0.00174	-0.696000	0.05098	0.482000	0.46254	AAT	ZNF334	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	T			45130587	-1	no_errors	ENST00000347606	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF334	55713	genome.wustl.edu	37	20	45130587	45130587	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr20:45130587T>C	ENST00000347606.4	-	5	1573	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	ZNF334_ENST00000457685.2_Missense_Mutation_p.N426S|ZNF334_ENST00000593880.1_Missense_Mutation_p.N487S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCCACATTCATTACATTCATA	0.363																																																	0													99.0	97.0	98.0					20																	45130587		2203	4299	6502	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1391A>G	20.37:g.45130587T>C	ENSP00000255129:p.Asn464Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N464S	ENST00000347606.4	37	c.1391	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	T	7.167	0.586914	0.13749	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.50277	0.75;0.75	3.45	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	N	0.16098	0.37	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.12837	0.006;0.006;0.008	T	0.19679	-1.0298	9	0.20046	T	0.44	.	4.7442	0.13029	0.0:0.3488:0.3191:0.3321	.	426;464;487	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	426;464	ENSP00000402582:N426S;ENSP00000255129:N464S	ENSP00000255129:N464S	N	-	2	0	ZNF334	44563994	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-4.884000	0.00174	-0.696000	0.05098	0.482000	0.46254	AAT	ZNF334	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	T			45130587	-1	no_errors	ENST00000347606	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF404	342908	genome.wustl.edu	37	19	44378036	44378036	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:44378036C>T	ENST00000587539.1	-	3	329	c.330G>A	c.(328-330)atG>atA	p.M110I	ZNF404_ENST00000324394.6_Missense_Mutation_p.M108I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTTTGAATATCATTTGACTAA	0.328																																																	0													136.0	146.0	143.0					19																	44378036		1828	4090	5918	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.330G>A	19.37:g.44378036C>T	ENSP00000466051:p.Met110Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M110I	ENST00000587539.1	37	c.330	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832547	0.02713	.	.	ENSG00000176222	ENST00000324394	T	0.06218	3.33	2.99	0.738	0.18319	.	.	.	.	.	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.38693	-0.9649	9	0.72032	D	0.01	.	4.848	0.13523	0.3688:0.5146:0.0:0.1166	.	110	Q494X3	ZN404_HUMAN	I	108	ENSP00000319479:M108I	ENSP00000319479:M108I	M	-	3	0	ZNF404	49069876	0.160000	0.22878	0.039000	0.18376	0.210000	0.24377	1.132000	0.31418	0.545000	0.28902	0.404000	0.27445	ATG	ZNF404	-	NULL		0.328	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	C	NM_001033719		44378036	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF404	342908	genome.wustl.edu	37	19	44378036	44378036	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A0TN-01A-21D-A14W-08	TCGA-C5-A0TN-10B-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a006bbb-6b95-4d82-8d1f-1b416a803c06	7a14d340-4758-457c-8fb0-6239640621b8	g.chr19:44378036C>T	ENST00000587539.1	-	3	329	c.330G>A	c.(328-330)atG>atA	p.M110I	ZNF404_ENST00000324394.6_Missense_Mutation_p.M108I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTTTGAATATCATTTGACTAA	0.328																																																	0													136.0	146.0	143.0					19																	44378036		1828	4090	5918	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.330G>A	19.37:g.44378036C>T	ENSP00000466051:p.Met110Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M110I	ENST00000587539.1	37	c.330	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832547	0.02713	.	.	ENSG00000176222	ENST00000324394	T	0.06218	3.33	2.99	0.738	0.18319	.	.	.	.	.	T	0.04407	0.0121	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.38693	-0.9649	9	0.72032	D	0.01	.	4.848	0.13523	0.3688:0.5146:0.0:0.1166	.	110	Q494X3	ZN404_HUMAN	I	108	ENSP00000319479:M108I	ENSP00000319479:M108I	M	-	3	0	ZNF404	49069876	0.160000	0.22878	0.039000	0.18376	0.210000	0.24377	1.132000	0.31418	0.545000	0.28902	0.404000	0.27445	ATG	ZNF404	-	NULL		0.328	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	C	NM_001033719		44378036	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	0.000	T
