#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
AAAS	8086	genome.wustl.edu	37	12	53708178	53708178	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:53708178G>A	ENST00000209873.4	-	7	758	c.593C>T	c.(592-594)tCt>tTt	p.S198F	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.S165F|AAAS_ENST00000550286.1_Missense_Mutation_p.S74F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	198					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCAGGCCAGAGACGCCACATT	0.587																																																	0													77.0	75.0	75.0					12																	53708178		2203	4300	6503	SO:0001583	missense	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.593C>T	12.37:g.53708178G>A	ENSP00000209873:p.Ser198Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S198F	ENST00000209873.4	37	c.593	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719576	0.68844	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.96522	-4.02;-4.04;-4.02;-0.27	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.163773	0.53938	D	0.000048	D	0.92244	0.7540	L	0.29908	0.895	0.27016	N	0.964587	B;B	0.33448	0.412;0.162	B;B	0.31614	0.133;0.121	D	0.88025	0.2771	10	0.66056	D	0.02	-15.8065	12.1174	0.53873	0.0:0.1725:0.8275:0.0	.	165;198	Q5JB47;Q9NRG9	.;AAAS_HUMAN	F	198;165;74;165	ENSP00000209873:S198F;ENSP00000377908:S165F;ENSP00000446885:S74F;ENSP00000448020:S165F	ENSP00000209873:S198F	S	-	2	0	AAAS	51994445	0.905000	0.30787	0.884000	0.34674	0.987000	0.75469	3.942000	0.56614	2.859000	0.98148	0.591000	0.81541	TCT	AAAS	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	G			53708178	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	missense	SNP	0.892	A
AAK1	22848	genome.wustl.edu	37	2	69757802	69757802	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:69757802G>A	ENST00000409085.4	-	7	1069	c.693C>T	c.(691-693)gtC>gtT	p.V231V	AAK1_ENST00000470281.1_5'Flank|AAK1_ENST00000406297.3_Silent_p.V231V|AAK1_ENST00000409068.1_Silent_p.V231V	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGTACAGGTTGACCATTTCTG	0.398																																																	0													167.0	149.0	155.0					2																	69757802		1970	4166	6136	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.693C>T	2.37:g.69757802G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V231	ENST00000409085.4	37	c.693	CCDS1893.2	2																																																																																			AAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	G	NM_014911		69757802	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCA12	26154	genome.wustl.edu	37	2	215802306	215802306	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:215802306C>T	ENST00000272895.7	-	51	7689	c.7470G>A	c.(7468-7470)ttG>ttA	p.L2490L	ABCA12_ENST00000389661.4_Silent_p.L2172L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2490					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTATTCTTCAAGTGAACTT	0.383																																					Ovarian(66;664 1488 5121 34295)												0													149.0	135.0	140.0					2																	215802306		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7470G>A	2.37:g.215802306C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2490	ENST00000272895.7	37	c.7470	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215802306	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	1.000	T
ABCA13	154664	genome.wustl.edu	37	7	48318457	48318457	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:48318457G>A	ENST00000435803.1	+	18	7690	c.7666G>A	c.(7666-7668)Gac>Aac	p.D2556N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2556					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAATTCTTTGACACTCTGTA	0.318																																																	0													97.0	102.0	100.0					7																	48318457		1828	4075	5903	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7666G>A	7.37:g.48318457G>A	ENSP00000411096:p.Asp2556Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D2556N	ENST00000435803.1	37	c.7666	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904072	0.17760	.	.	ENSG00000179869	ENST00000435803	T	0.61274	0.12	4.87	3.96	0.45880	.	0.252542	0.27739	N	0.018060	T	0.45994	0.1370	L	0.34521	1.04	0.20307	N	0.999912	P	0.36065	0.535	B	0.35813	0.211	T	0.44574	-0.9319	10	0.87932	D	0	.	10.9796	0.47486	0.0:0.1894:0.8106:0.0	.	2556	Q86UQ4	ABCAD_HUMAN	N	2556	ENSP00000411096:D2556N	ENSP00000411096:D2556N	D	+	1	0	ABCA13	48289003	0.019000	0.18553	0.003000	0.11579	0.023000	0.10783	1.342000	0.33919	1.017000	0.39495	0.655000	0.94253	GAC	ABCA13	-	NULL		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48318457	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.012	A
ABCB8	11194	genome.wustl.edu	37	7	150739122	150739122	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:150739122G>A	ENST00000297504.6	+	15	1809	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.V564V|ABCB8_ENST00000358849.4_Silent_p.V564V|ABCB8_ENST00000542328.1_Silent_p.V476V			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	581	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ATGAAGAGGTGTACACAGCCG	0.597																																																	0													65.0	66.0	66.0					7																	150739122		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1743G>A	7.37:g.150739122G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V581	ENST00000297504.6	37	c.1743		7																																																																																			ABCB8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	G	NM_007188		150739122	+1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.019	A
ABCC6	368	genome.wustl.edu	37	16	16248553	16248553	+	Silent	SNP	G	G	C	rs368258006		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:16248553G>C	ENST00000205557.7	-	29	4169	c.4140C>G	c.(4138-4140)ctC>ctG	p.L1380L		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1380	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAAGGCTTTGAGCTGCACCG	0.642																																																	0													33.0	29.0	30.0					16																	16248553		2197	4298	6495	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4140C>G	16.37:g.16248553G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L1380	ENST00000205557.7	37	c.4140	CCDS10568.1	16																																																																																			ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.642	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	G			16248553	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.775	C
ABHD10	55347	genome.wustl.edu	37	3	111700728	111700728	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:111700728C>T	ENST00000273359.3	+	2	267	c.240C>T	c.(238-240)ttC>ttT	p.F80F	ABHD10_ENST00000534857.1_Intron|ABHD10_ENST00000494817.1_Silent_p.F80F	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	80					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GAATTATCTTCATCCCTGGCT	0.418																																																	0													117.0	111.0	113.0					3																	111700728		2203	4300	6503	SO:0001819	synonymous_variant	55347			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.240C>T	3.37:g.111700728C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Silent	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.F80	ENST00000273359.3	37	c.240	CCDS2963.1	3																																																																																			ABHD10	-	NULL		0.418	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	C	NM_018394		111700728	+1	no_errors	ENST00000273359	ensembl	human	known	70_37	silent	SNP	1.000	T
ACAN	176	genome.wustl.edu	37	15	89400951	89400951	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:89400951G>A	ENST00000561243.1	+	11	5135	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	ACAN_ENST00000439576.2_Missense_Mutation_p.G1712E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1712E|ACAN_ENST00000352105.7_Missense_Mutation_p.G1712E			P16112	PGCA_HUMAN	aggrecan	1754	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCTTCAGGAACTGAACTC	0.537																																																	0													170.0	168.0	168.0					15																	89400951		1966	4151	6117	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5135G>A	15.37:g.89400951G>A	ENSP00000453342:p.Gly1712Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.G1712E	ENST00000561243.1	37	c.5135	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717972	0.68844	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.05996	3.64;3.36	5.86	5.86	0.93980	.	0.000000	0.31897	N	0.006893	T	0.26702	0.0653	M	0.72118	2.19	0.25253	N	0.989651	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.01401	-1.1364	10	0.54805	T	0.06	-16.0727	19.1747	0.93599	0.0:0.0:1.0:0.0	.	1712;1712	E7ENV9;E7EX88	.;.	E	1712;1712;1598	ENSP00000387356:G1712E;ENSP00000341615:G1712E	ENSP00000268134:G1598E	G	+	2	0	ACAN	87201955	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.058000	0.76676	2.775000	0.95449	0.655000	0.94253	GGA	ACAN	-	NULL		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89400951	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	A
ACAN	176	genome.wustl.edu	37	15	89415302	89415302	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:89415302G>C	ENST00000561243.1	+	14	7174	c.7174G>C	c.(7174-7176)Gat>Cat	p.D2392H	ACAN_ENST00000439576.2_Missense_Mutation_p.D2392H|ACAN_ENST00000559004.1_Missense_Mutation_p.D2354H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2354H			P16112	PGCA_HUMAN	aggrecan	2277	G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTGGTCAGATGGACACCC	0.582																																																	0													98.0	102.0	101.0					15																	89415302		2174	4294	6468	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7174G>C	15.37:g.89415302G>C	ENSP00000453342:p.Asp2392His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D2392H	ENST00000561243.1	37	c.7174	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931490	0.73442	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.31769	1.48;1.48	5.66	5.66	0.87406	.	0.000000	0.33670	N	0.004673	T	0.55065	0.1897	H	0.98155	4.16	0.49582	D	0.999803	P;P	0.50943	0.94;0.714	B;B	0.40375	0.327;0.156	T	0.76195	-0.3048	10	0.87932	D	0	-24.0285	18.7251	0.91711	0.0:0.0:1.0:0.0	.	2354;2392	E7ENV9;E7EX88	.;.	H	2392;2354;2278	ENSP00000387356:D2392H;ENSP00000341615:D2354H	ENSP00000268134:D2278H	D	+	1	0	ACAN	87216306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.754000	0.98908	2.666000	0.90696	0.609000	0.83330	GAT	ACAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89415302	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	C
ACAP3	116983	genome.wustl.edu	37	1	1238334	1238334	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:1238334C>T	ENST00000354700.5	-	4	449	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ACAP3_ENST00000353662.3_Missense_Mutation_p.D41N	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	83					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TGTAGGCTGTCAGCGAACCTC	0.652																																																	0													66.0	51.0	56.0					1																	1238334		2197	4294	6491	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.247G>A	1.37:g.1238334C>T	ENSP00000346733:p.Asp83Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.D41N	ENST00000354700.5	37	c.121	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307373	0.40795	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.00502	6.95;6.95	3.92	3.92	0.45320	IRSp53/MIM homology domain (IMD) (1);	0.060855	0.64402	D	0.000004	T	0.00637	0.0021	L	0.56769	1.78	0.41592	D	0.988804	B;P;P	0.41848	0.198;0.704;0.763	B;B;B	0.42282	0.108;0.197;0.382	D	0.83999	0.0342	10	0.18276	T	0.48	.	15.4793	0.75511	0.0:1.0:0.0:0.0	.	123;83;41	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	N	83;41	ENSP00000346733:D83N;ENSP00000321139:D41N	ENSP00000321139:D41N	D	-	1	0	ACAP3	1228197	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.370000	0.59517	2.197000	0.70478	0.561000	0.74099	GAC	ACAP3	-	NULL		0.652	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	C	NM_030649		1238334	-1	no_errors	ENST00000353662	ensembl	human	known	70_37	missense	SNP	1.000	T
ACCSL	390110	genome.wustl.edu	37	11	44079866	44079866	+	Splice_Site	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:44079866G>C	ENST00000378832.1	+	12	1383		c.e12-1			NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACCCATCCAGAATGGATTGA	0.463																																																	0													81.0	78.0	79.0					11																	44079866		1892	4113	6005	SO:0001630	splice_region_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1328-1G>C	11.37:g.44079866G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e12-1	ENST00000378832.1	37	c.1328-1	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397205	0.42512	.	.	ENSG00000205126	ENST00000378832	.	.	.	4.71	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0464	0.47861	0.0914:0.0:0.9086:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCSL	44036442	1.000000	0.71417	0.822000	0.32727	0.096000	0.18686	6.098000	0.71458	1.329000	0.45376	0.655000	0.94253	.	ACCSL	-	-		0.463	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	G	NM_001031854	Intron	44079866	+1	no_errors	ENST00000378832	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ACRC	93953	genome.wustl.edu	37	X	70824305	70824305	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70824305C>G	ENST00000373695.1	+	7	1715	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*	ACRC_ENST00000373696.3_Nonsense_Mutation_p.S393*			Q96QF7	ACRC_HUMAN	acidic repeat containing	393						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCTGAAGTTTCAGAGAGAAAG	0.488																																																	0													45.0	32.0	36.0					X																	70824305		2203	4300	6503	SO:0001587	stop_gained	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1178C>G	X.37:g.70824305C>G	ENSP00000362799:p.Ser393*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG62	Nonsense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S393*	ENST00000373695.1	37	c.1178	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	37	5.996368	0.97184	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	.	.	.	3.25	-5.89	0.02282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	2.6814	0.05094	0.1381:0.1449:0.1366:0.5804	.	.	.	.	X	393	.	ENSP00000362799:S393X	S	+	2	0	ACRC	70741030	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.666000	0.00399	-1.781000	0.01277	-0.192000	0.12808	TCA	ACRC	-	NULL		0.488	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	C			70824305	+1	no_errors	ENST00000373695	ensembl	human	known	70_37	nonsense	SNP	0.000	G
ACTN2	88	genome.wustl.edu	37	1	236925802	236925802	+	Silent	SNP	G	G	A	rs149554430		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:236925802G>A	ENST00000366578.4	+	21	2734	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	ACTN2_ENST00000542672.1_Silent_p.P856P|ACTN2_ENST00000546208.1_Silent_p.P350P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	856					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCTGCCCCCGGATCAGGCCC	0.572																																																	0								G		0,4406		0,0,2203	51.0	52.0	52.0		2568	-10.9	0.4	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ACTN2	NM_001103.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		856/895	236925802	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2568G>A	1.37:g.236925802G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.P856	ENST00000366578.4	37	c.2568	CCDS1613.1	1																																																																																			ACTN2	-	pfam_EF-hand_Ca_insen		0.572	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	G	NM_001103		236925802	+1	no_errors	ENST00000366578	ensembl	human	known	70_37	silent	SNP	0.035	A
ACTR5	79913	genome.wustl.edu	37	20	37378768	37378768	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:37378768G>A	ENST00000243903.4	+	2	528	c.491G>A	c.(490-492)gGa>gAa	p.G164E		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	164					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTTGCCTATGGAATAGACAGC	0.458																																																	0													150.0	136.0	141.0					20																	37378768		2203	4300	6503	SO:0001583	missense	79913			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.491G>A	20.37:g.37378768G>A	ENSP00000243903:p.Gly164Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.G164E	ENST00000243903.4	37	c.491	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685252	0.88639	.	.	ENSG00000101442	ENST00000243903	D	0.94576	-3.46	4.71	4.71	0.59529	.	0.112351	0.64402	D	0.000011	D	0.97723	0.9253	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98816	1.0745	10	0.87932	D	0	-16.9616	18.054	0.89358	0.0:0.0:1.0:0.0	.	164	Q9H9F9	ARP5_HUMAN	E	164	ENSP00000243903:G164E	ENSP00000243903:G164E	G	+	2	0	ACTR5	36812182	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.371000	0.97162	2.326000	0.78906	0.563000	0.77884	GGA	ACTR5	-	pfam_Actin-like,smart_Actin-like		0.458	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	G	NM_024855		37378768	+1	no_errors	ENST00000243903	ensembl	human	known	70_37	missense	SNP	1.000	A
ACVR1B	91	genome.wustl.edu	37	12	52379000	52379000	+	Missense_Mutation	SNP	A	A	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:52379000A>G	ENST00000257963.4	+	6	1081	c.1004A>G	c.(1003-1005)gAc>gGc	p.D335G	ACVR1B_ENST00000541224.1_Missense_Mutation_p.D376G|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000542485.1_Missense_Mutation_p.D283G|ACVR1B_ENST00000426655.2_Missense_Mutation_p.D335G|ACVR1B_ENST00000415850.2_Missense_Mutation_p.D335G|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCTCATCGAGACTTAAAGTCA	0.443																																																	0													85.0	81.0	82.0					12																	52379000		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1004A>G	12.37:g.52379000A>G	ENSP00000257963:p.Asp335Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D335G	ENST00000257963.4	37	c.1004	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617914	0.87359	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	H	0.99565	4.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.999;1.0	D	0.99425	1.0934	10	0.87932	D	0	.	14.7556	0.69560	1.0:0.0:0.0:0.0	.	376;335;335;335	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	G	335;376;335;335;283	ENSP00000257963:D335G;ENSP00000442656:D376G;ENSP00000390477:D335G;ENSP00000397550:D335G;ENSP00000442885:D283G	ENSP00000257963:D335G	D	+	2	0	ACVR1B	50665267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.138000	0.66242	0.460000	0.39030	GAC	ACVR1B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.443	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	A	NM_020328		52379000	+1	no_errors	ENST00000257963	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAM23	8745	genome.wustl.edu	37	2	207413014	207413014	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:207413014G>T	ENST00000264377.3	+	8	1131	c.803G>T	c.(802-804)aGa>aTa	p.R268I	ADAM23_ENST00000374415.3_Missense_Mutation_p.R268I|ADAM23_ENST00000374416.1_Missense_Mutation_p.R268I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	268					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GCTATGGAAAGAGGTGACCAG	0.388																																					Melanoma(194;1127 2130 19620 24042 27855)												0													123.0	122.0	123.0					2																	207413014		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.803G>T	2.37:g.207413014G>T	ENSP00000264377:p.Arg268Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R268I	ENST00000264377.3	37	c.803	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948390	0.18356	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.01902	4.58;4.58;4.57	4.92	1.67	0.24075	.	2.080000	0.02380	N	0.078699	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44097	-0.9350	10	0.37606	T	0.19	.	0.8262	0.01121	0.2216:0.1846:0.4029:0.1909	.	268	O75077	ADA23_HUMAN	I	268;268;162;268	ENSP00000264377:R268I;ENSP00000363537:R268I;ENSP00000363536:R268I	ENSP00000264377:R268I	R	+	2	0	ADAM23	207121259	0.001000	0.12720	0.048000	0.18961	0.032000	0.12392	0.376000	0.20535	1.048000	0.40298	0.563000	0.77884	AGA	ADAM23	-	NULL		0.388	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	G	NM_003812		207413014	+1	no_errors	ENST00000264377	ensembl	human	known	70_37	missense	SNP	0.000	T
ADAMTS10	81794	genome.wustl.edu	37	19	8670211	8670211	+	Missense_Mutation	SNP	T	T	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:8670211T>A	ENST00000597188.1	-	4	391	c.121A>T	c.(121-123)Atc>Ttc	p.I41F	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.I41F	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	41						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGAAGGCGATCTCATAGCTC	0.667																																																	0													24.0	19.0	21.0					19																	8670211		2200	4300	6500	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.121A>T	19.37:g.8670211T>A	ENSP00000471851:p.Ile41Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.I41F	ENST00000597188.1	37	c.121	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352744	0.82132	.	.	ENSG00000142303	ENST00000270328	T	0.07444	3.19	5.38	5.38	0.77491	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.41356	1.27	0.80722	D	1	D	0.55605	0.972	P	0.59288	0.855	T	0.02477	-1.1153	10	0.30078	T	0.28	.	14.5708	0.68210	0.0:0.0:0.0:1.0	.	41	Q9H324	ATS10_HUMAN	F	41	ENSP00000270328:I41F	ENSP00000270328:I41F	I	-	1	0	ADAMTS10	8576211	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.622000	0.61240	2.038000	0.60285	0.402000	0.26972	ATC	ADAMTS10	-	pfam_Peptidase_M12B_N		0.667	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	T	NM_030957		8670211	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33527310	33527310	+	Missense_Mutation	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:33527310T>C	ENST00000504830.1	-	24	5103	c.4768A>G	c.(4768-4770)Aag>Gag	p.K1590E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1505E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1590					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTTGACTTTTGGAGCAAC	0.537										HNSCC(64;0.19)																																							0													258.0	235.0	243.0					5																	33527310		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4768A>G	5.37:g.33527310T>C	ENSP00000422554:p.Lys1590Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1590E	ENST00000504830.1	37	c.4768	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145579	0.37923	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59772	0.25;0.24	5.69	4.5	0.54988	.	0.963369	0.08562	N	0.927350	T	0.44371	0.1290	N	0.22421	0.69	0.20307	N	0.999918	B;B	0.22146	0.065;0.039	B;B	0.22601	0.04;0.011	T	0.32745	-0.9895	10	0.25751	T	0.34	.	9.7422	0.40424	0.0:0.0:0.1742:0.8258	.	1505;1590	P58397-3;P58397	.;ATS12_HUMAN	E	1590;1505	ENSP00000422554:K1590E;ENSP00000344847:K1505E	ENSP00000344847:K1505E	K	-	1	0	ADAMTS12	33563067	0.960000	0.32886	0.001000	0.08648	0.003000	0.03518	1.314000	0.33597	0.960000	0.38005	0.533000	0.62120	AAG	ADAMTS12	-	NULL		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	T	NM_030955		33527310	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.002	C
ADCY8	114	genome.wustl.edu	37	8	131848627	131848627	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:131848627C>T	ENST00000286355.5	-	12	4663	c.2571G>A	c.(2569-2571)ctG>ctA	p.L857L	ADCY8_ENST00000377928.3_Silent_p.L726L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	857					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCCAGCTTCAGGACGGAGT	0.532										HNSCC(32;0.087)																																							0													147.0	114.0	125.0					8																	131848627		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2571G>A	8.37:g.131848627C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L857	ENST00000286355.5	37	c.2571	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.532	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131848627	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	T
ETNPPL	64850	genome.wustl.edu	37	4	109669261	109669261	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:109669261C>G	ENST00000296486.3	-	9	1136	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	ETNPPL_ENST00000510706.1_Missense_Mutation_p.E288Q|ETNPPL_ENST00000512646.1_Missense_Mutation_p.E270Q|ETNPPL_ENST00000411864.2_Missense_Mutation_p.E322Q	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	328						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCTTCATTTTCAATTATATCC	0.348																																																	0													121.0	117.0	118.0					4																	109669261		2203	4300	6503	SO:0001583	missense	64850			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.982G>C	4.37:g.109669261C>G	ENSP00000296486:p.Glu328Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E328Q	ENST00000296486.3	37	c.982	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018815	0.75275	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.54	2.86	0.33363	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.270144	0.41605	D	0.000855	D	0.90445	0.7008	M	0.80028	2.48	0.44899	D	0.997912	B;B;P	0.41188	0.07;0.128;0.741	B;B;P	0.54590	0.141;0.197;0.756	D	0.87291	0.2299	9	.	.	.	-10.9782	7.1541	0.25626	0.0:0.691:0.1266:0.1823	.	270;322;328	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	Q	328;322;270;288	ENSP00000296486:E328Q;ENSP00000392269:E322Q;ENSP00000427065:E270Q;ENSP00000423240:E288Q	.	E	-	1	0	AGXT2L1	109888710	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	4.904000	0.63279	0.381000	0.24851	0.655000	0.94253	GAA	AGXT2L1	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom		0.348	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGXT2L1	HGNC	protein_coding	OTTHUMT00000363508.1	C	NM_031279		109669261	-1	no_errors	ENST00000296486	ensembl	human	known	70_37	missense	SNP	0.998	G
AHNAK	79026	genome.wustl.edu	37	11	62292606	62292606	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62292606C>T	ENST00000378024.4	-	5	9557	c.9283G>A	c.(9283-9285)Gac>Aac	p.D3095N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3095					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCAATGTCAGGCATGGAG	0.448																																																	0													214.0	227.0	222.0					11																	62292606		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9283G>A	11.37:g.62292606C>T	ENSP00000367263:p.Asp3095Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3095N	ENST00000378024.4	37	c.9283	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	14.80	2.644856	0.47258	.	.	ENSG00000124942	ENST00000378024	T	0.00976	5.48	4.2	4.2	0.49525	.	.	.	.	.	T	0.07279	0.0184	M	0.90145	3.09	0.43936	D	0.996599	D	0.76494	0.999	D	0.80764	0.994	T	0.16100	-1.0414	9	0.42905	T	0.14	-10.6673	16.1538	0.81644	0.0:1.0:0.0:0.0	.	3095	Q09666	AHNK_HUMAN	N	3095	ENSP00000367263:D3095N	ENSP00000367263:D3095N	D	-	1	0	AHNAK	62049182	1.000000	0.71417	0.792000	0.32020	0.390000	0.30446	5.087000	0.64480	1.875000	0.54330	0.305000	0.20034	GAC	AHNAK	-	NULL		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62292606	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	1.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105405974	105405974	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:105405974C>T	ENST00000333244.5	-	7	15933	c.15814G>A	c.(15814-15816)Gat>Aat	p.D5272N	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D270N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5272						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCAAGATCACACCTTAGA	0.522																																																	0													120.0	126.0	124.0					14																	105405974		2048	4203	6251	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15814G>A	14.37:g.105405974C>T	ENSP00000353114:p.Asp5272Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D5272N	ENST00000333244.5	37	c.15814	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860080	0.71834	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03242	4.0;5.39	4.98	-9.86	0.00473	.	0.795957	0.10440	N	0.674423	T	0.01627	0.0052	N	0.11560	0.145	0.09310	N	1	B	0.20459	0.045	B	0.18871	0.023	T	0.45338	-0.9268	10	0.26408	T	0.33	.	8.3797	0.32463	0.0:0.3558:0.4613:0.1829	.	5272	Q8IVF2	AHNK2_HUMAN	N	270;5272	ENSP00000450998:D270N;ENSP00000353114:D5272N	ENSP00000353114:D5272N	D	-	1	0	AHNAK2	104477019	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.038000	0.03553	-1.860000	0.01154	0.561000	0.74099	GAT	AHNAK2	-	NULL		0.522	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105405974	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	T
AK2	204	genome.wustl.edu	37	1	33490087	33490087	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:33490087C>T	ENST00000487289.1	-	2	190	c.175G>A	c.(175-177)Gag>Aag	p.E59K	AK2_ENST00000354858.6_Missense_Mutation_p.E59K|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Missense_Mutation_p.E59K|AK2_ENST00000467905.1_Missense_Mutation_p.E59K|AK2_ENST00000373449.2_Missense_Mutation_p.E59K					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTCCTAGCTCTGAGCCAGAA	0.483																																																	0													91.0	83.0	85.0					1																	33490087		2203	4298	6501	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.175G>A	1.37:g.33490087C>T	ENSP00000446849:p.Glu59Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.E59K	ENST00000487289.1	37	c.175		1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062064	0.76187	.	.	ENSG00000004455	ENST00000373449;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.26	5.26	0.73747	.	0.089222	0.85682	D	0.000000	T	0.75525	0.3861	L	0.52364	1.645	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.15052	0.007;0.012;0.007	T	0.70011	-0.4989	10	0.48119	T	0.1	-23.9467	19.7728	0.96373	0.0:1.0:0.0:0.0	.	59;59;59	P54819-5;P54819;P54819-2	.;KAD2_HUMAN;.	K	59	ENSP00000362548:E59K;ENSP00000447082:E59K;ENSP00000450109:E59K;ENSP00000346921:E59K;ENSP00000446849:E59K	ENSP00000346921:E59K	E	-	1	0	AK2	33262674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.201000	0.77847	2.840000	0.97914	0.655000	0.94253	GAG	AK2	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.483	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	AK2	HGNC	protein_coding	OTTHUMT00000011889.4	C	NM_001625		33490087	-1	no_errors	ENST00000354858	ensembl	human	known	70_37	missense	SNP	1.000	T
AK2	204	genome.wustl.edu	37	1	33490112	33490112	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:33490112C>G	ENST00000487289.1	-	2	165	c.150G>C	c.(148-150)ctG>ctC	p.L50L	AK2_ENST00000354858.6_Silent_p.L50L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Silent_p.L50L|AK2_ENST00000467905.1_Silent_p.L50L|AK2_ENST00000373449.2_Silent_p.L50L					adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCATGGCCCTCAGCATGTCCC	0.468																																																	0													77.0	71.0	73.0					1																	33490112		2203	4296	6499	SO:0001819	synonymous_variant	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.150G>C	1.37:g.33490112C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.L50	ENST00000487289.1	37	c.150		1																																																																																			AK2	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.468	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	AK2	HGNC	protein_coding	OTTHUMT00000011889.4	C	NM_001625		33490112	-1	no_errors	ENST00000354858	ensembl	human	known	70_37	silent	SNP	1.000	G
AKNA	80709	genome.wustl.edu	37	9	117130767	117130767	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:117130767C>G	ENST00000307564.4	-	5	1686	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E509Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E428Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E509Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	509					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCCACCACTCTGCAGAGCGG	0.667																																																	0													48.0	41.0	43.0					9																	117130767		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1525G>C	9.37:g.117130767C>G	ENSP00000303769:p.Glu509Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.E509Q	ENST00000307564.4	37	c.1525	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559828	0.27827	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.34859	2.55;2.55;2.55;1.34	4.87	-0.553	0.11815	.	0.518379	0.16885	N	0.195541	T	0.26629	0.0651	L	0.46157	1.445	0.09310	N	0.999999	B;B	0.19331	0.02;0.035	B;B	0.16289	0.007;0.015	T	0.24119	-1.0169	10	0.20519	T	0.43	-2.628	10.184	0.42986	0.0:0.3027:0.6101:0.0873	.	509;428	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	509;350;509;428;509	ENSP00000303769:E509Q;ENSP00000363201:E509Q;ENSP00000363188:E428Q;ENSP00000309222:E509Q	ENSP00000303769:E509Q	E	-	1	0	AKNA	116170588	0.001000	0.12720	0.002000	0.10522	0.046000	0.14306	-0.004000	0.12878	-0.275000	0.09219	-0.951000	0.02657	GAG	AKNA	-	NULL		0.667	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117130767	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.011	G
AKR7A2	8574	genome.wustl.edu	37	1	19633836	19633836	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:19633836C>T	ENST00000235835.3	-	4	681	c.660G>A	c.(658-660)ctG>ctA	p.L220L	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	220					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CATAGAACCTCAGTCCAAAGT	0.597																																																	0													97.0	91.0	93.0					1																	19633836		2203	4297	6500	SO:0001819	synonymous_variant	8574			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.660G>A	1.37:g.19633836C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75749|Q5TG63	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.L220	ENST00000235835.3	37	c.660	CCDS194.1	1																																																																																			AKR7A2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.597	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	HGNC	protein_coding	OTTHUMT00000007165.2	C	NM_003689		19633836	-1	no_errors	ENST00000235835	ensembl	human	known	70_37	silent	SNP	0.998	T
ALDH1L2	160428	genome.wustl.edu	37	12	105455416	105455416	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:105455416C>T	ENST00000258494.9	-	8	1176	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E346K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	346	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGATGGTCTCTGCCACTTTC	0.443																																																	0													208.0	193.0	198.0					12																	105455416		2203	4300	6503	SO:0001583	missense	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1036G>A	12.37:g.105455416C>T	ENSP00000258494:p.Glu346Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E346K	ENST00000258494.9	37	c.1036	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948454	0.53186	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.75938	-0.98;0.85	5.62	4.68	0.58851	Acyl carrier protein-like (2);	0.485200	0.23298	N	0.049713	T	0.73426	0.3585	M	0.64404	1.975	0.39772	D	0.97217	B	0.20459	0.045	B	0.32289	0.143	T	0.71941	-0.4440	10	0.42905	T	0.14	.	12.7692	0.57410	0.1199:0.749:0.1311:0.0	.	346	Q3SY69	AL1L2_HUMAN	K	346	ENSP00000258494:E346K;ENSP00000389608:E346K	ENSP00000258494:E346K	E	-	1	0	ALDH1L2	103979546	1.000000	0.71417	0.973000	0.42090	0.954000	0.61252	4.744000	0.62118	2.648000	0.89879	0.650000	0.86243	GAG	ALDH1L2	-	superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105455416	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	missense	SNP	0.968	T
ALG13	79868	genome.wustl.edu	37	X	110928226	110928226	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:110928226G>A	ENST00000394780.3	+	3	290	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Missense_Mutation_p.G93E	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	93	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTGGAAAAAGGAAAGCCACTC	0.388																																																	0													196.0	199.0	198.0					X																	110928226		2203	4300	6503	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.278G>A	X.37:g.110928226G>A	ENSP00000378260:p.Gly93Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C	p.G93E	ENST00000394780.3	37	c.278	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310970	0.23821	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	D;D;D	0.82255	-1.59;-1.59;-1.59	6.17	5.31	0.75309	Glycosyl transferase, family 28, C-terminal (1);	.	.	.	.	D	0.86928	0.6051	.	.	.	0.80722	D	1	D;D;B	0.56968	0.973;0.978;0.002	P;P;B	0.55749	0.676;0.783;0.006	D	0.86486	0.1794	8	0.44086	T	0.13	.	13.6632	0.62378	0.0758:0.0:0.9242:0.0	.	15;93;93	Q9NP73-3;Q9NP73;Q9NP73-2	.;ALG13_HUMAN;.	E	93	ENSP00000361047:G93E;ENSP00000426892:G93E;ENSP00000378260:G93E	ENSP00000361047:G93E	G	+	2	0	ALG13	110814882	1.000000	0.71417	0.987000	0.45799	0.055000	0.15305	4.937000	0.63513	2.618000	0.88619	0.600000	0.82982	GGA	ALG13	-	pfam_Glyco_trans_28_C		0.388	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		110928226	+1	no_errors	ENST00000371979	ensembl	human	known	70_37	missense	SNP	0.981	A
ALS2	57679	genome.wustl.edu	37	2	202622381	202622381	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:202622381C>T	ENST00000264276.6	-	5	1587	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	405					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAGCCACTCTCACACCAACAG	0.483																																																	0													67.0	68.0	68.0					2																	202622381		1990	4187	6177	SO:0001819	synonymous_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1215G>A	2.37:g.202622381C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.V405	ENST00000264276.6	37	c.1215	CCDS42800.1	2																																																																																			ALS2	-	NULL		0.483	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202622381	-1	no_errors	ENST00000264276	ensembl	human	known	70_37	silent	SNP	1.000	T
AMD1	262	genome.wustl.edu	37	6	111214813	111214813	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:111214813G>C	ENST00000368885.3	+	9	1335	c.999G>C	c.(997-999)caG>caC	p.Q333H	AMD1_ENST00000368877.5_Missense_Mutation_p.Q304H|AMD1_ENST00000368876.1_Missense_Mutation_p.Q264H|AMD1_ENST00000451850.2_Missense_Mutation_p.Q213H|AMD1_ENST00000368882.3_Missense_Mutation_p.Q185H	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	333					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AACAACAGCAGAGTTGATTAA	0.383																																																	0													61.0	55.0	57.0					6																	111214813		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.999G>C	6.37:g.111214813G>C	ENSP00000357880:p.Gln333His	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.Q333H	ENST00000368885.3	37	c.999	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339441	0.24339	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.88	5.88	0.94601	.	0.347014	0.33309	N	0.005054	T	0.23410	0.0566	N	0.04508	-0.205	0.50813	D	0.999896	B;B;B	0.13145	0.0;0.001;0.007	B;B;B	0.12156	0.001;0.002;0.007	T	0.07009	-1.0795	9	0.35671	T	0.21	.	16.6737	0.85273	0.0:0.138:0.862:0.0	.	213;304;333	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	H	333;185;213;304;264	.	ENSP00000357870:Q264H	Q	+	3	2	AMD1	111321506	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.488000	0.53229	2.781000	0.95711	0.591000	0.81541	CAG	AMD1	-	pirsf_S-AdoMet_decarboxylase_subgr		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111214813	+1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKHD1	54882	genome.wustl.edu	37	5	139884800	139884800	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:139884800G>C	ENST00000360839.2	+	17	3398	c.3244G>C	c.(3244-3246)Gaa>Caa	p.E1082Q	ANKHD1_ENST00000297183.6_Missense_Mutation_p.E1082Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1082Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1082						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAAAATTGAACACAGAGA	0.348																																																	0													58.0	58.0	58.0					5																	139884800		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3244G>C	5.37:g.139884800G>C	ENSP00000354085:p.Glu1082Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E1082Q	ENST00000360839.2	37	c.3244	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762260|4.762260	0.89932|0.89932	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.64618|.	-0.11;-0.11;-0.11;-0.11;-0.11|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;0.999|.	D;D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.996;0.996|.	T|T	0.66732|0.66732	-0.5849|-0.5849	10|5	0.72032|.	D|.	0.01|.	.|.	19.3807|19.3807	0.94532|0.94532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	293;1082;1101;1082;1082|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	Q|F	1082;1115;1082;1082;616;293;1101;235;1082|307	ENSP00000354085:E1082Q;ENSP00000297183:E1082Q;ENSP00000394489:E1101Q;ENSP00000405602:E235Q;ENSP00000432016:E1082Q|.	ENSP00000432016:E1082Q|.	E|L	+|+	1|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139864984|139864984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.813000|9.813000	0.99286|0.99286	2.575000|2.575000	0.86900|0.86900	0.561000|0.561000	0.74099|0.74099	GAA|TTG	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.348	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	G	NM_017747		139884800	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD28	23243	genome.wustl.edu	37	3	15717536	15717536	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:15717536G>A	ENST00000399451.2	-	27	3151				ANKRD28_ENST00000383777.1_Intron|ANKRD28_ENST00000497037.1_Intron	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						atatgtgcatgtgcatgcaca	0.423																																																	0													59.0	55.0	56.0					3																	15717536		1943	4148	6091	SO:0001627	intron_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2784-40C>T	3.37:g.15717536G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	RNA	SNP	-	NULL	ENST00000399451.2	37	NULL	CCDS46769.1	3																																																																																			ANKRD28	-	-		0.423	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	G	NM_015199		15717536	-1	no_errors	ENST00000498713	ensembl	human	known	70_37	rna	SNP	0.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14822628	14822628	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14822628C>T	ENST00000358984.4	+	26	2518	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F	RP11-1157N2__B.2_ENST00000581117.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	780										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAAATTTCTCTTCCAAATAA	0.254																																																	0													6.0	4.0	5.0					18																	14822628		666	1473	2139	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2338C>T	18.37:g.14822628C>T	ENSP00000351875:p.Leu780Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L780F	ENST00000358984.4	37	c.2338	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	c	5.757	0.323991	0.10900	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.06218	3.33	0.958	-1.28	0.09318	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.54965	0.765	T	0.31364	-0.9946	9	0.87932	D	0	.	2.6237	0.04923	0.2355:0.311:0.4535:0.0	.	780	F8WAG3	.	F	780;174;200	ENSP00000351875:L780F	ENSP00000277669:L200F	L	+	1	0	ANKRD30B	14812628	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.615000	0.02055	-0.493000	0.06678	-2.160000	0.00327	CTT	ANKRD30B	-	NULL		0.254	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14822628	+1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.000	T
AP3D1	8943	genome.wustl.edu	37	19	2102253	2102253	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:2102253G>C	ENST00000345016.5	-	30	3612	c.3381C>G	c.(3379-3381)gtC>gtG	p.V1127V	AP3D1_ENST00000350812.6_Silent_p.V958V|AP3D1_ENST00000355272.6_Silent_p.V1189V|AP3D1_ENST00000356926.4_Silent_p.V1086V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V1127V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCGACTGAGACAGAGTTCT	0.527																																																	1	Substitution - coding silent(1)	lung(1)											107.0	110.0	109.0					19																	2102253		1983	4159	6142	SO:0001819	synonymous_variant	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3381C>G	19.37:g.2102253G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.V1189	ENST00000345016.5	37	c.3567	CCDS42459.1	19																																																																																			AP3D1	-	pfam_BLV_receptor		0.527	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	G			2102253	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	silent	SNP	0.888	C
APOB	338	genome.wustl.edu	37	2	21260896	21260896	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:21260896C>T	ENST00000233242.1	-	5	598	c.471G>A	c.(469-471)aaG>aaA	p.K157K	APOB_ENST00000399256.4_Silent_p.K157K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	157	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCCCTCTTGATGTTCA	0.498																																																	0													123.0	121.0	122.0					2																	21260896		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.471G>A	2.37:g.21260896C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.K157	ENST00000233242.1	37	c.471	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21260896	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	1.000	T
APRT	353	genome.wustl.edu	37	16	88876153	88876153	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88876153C>T	ENST00000378364.3	-	5	540	c.496G>A	c.(496-498)Gag>Aag	p.E166K	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Missense_Mutation_p.E139K	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	166					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GCCAGCTTCTCCCTGCCCTTA	0.612																																																	0													91.0	84.0	87.0					16																	88876153		2198	4300	6498	SO:0001583	missense	353				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.496G>A	16.37:g.88876153C>T	ENSP00000367615:p.Glu166Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.E166K	ENST00000378364.3	37	c.496	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707758	0.30322	.	.	ENSG00000198931	ENST00000378364	D	0.94280	-3.39	5.34	5.34	0.76211	.	0.221207	0.45606	D	0.000353	D	0.86393	0.5922	L	0.38175	1.15	0.48975	D	0.999732	B	0.30406	0.278	B	0.25759	0.063	T	0.80968	-0.1145	10	0.10377	T	0.69	-37.8742	8.8526	0.35210	0.0:0.7677:0.152:0.0803	.	166	P07741	APT_HUMAN	K	166	ENSP00000367615:E166K	ENSP00000367615:E166K	E	-	1	0	APRT	87403654	0.998000	0.40836	0.999000	0.59377	0.034000	0.12701	4.000000	0.57039	2.511000	0.84671	0.561000	0.74099	GAG	APRT	-	tigrfam_Ade_phspho_trans		0.612	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	C	NM_000485		88876153	-1	no_errors	ENST00000378364	ensembl	human	known	70_37	missense	SNP	0.994	T
ARAP2	116984	genome.wustl.edu	37	4	36230329	36230329	+	Silent	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:36230329T>C	ENST00000303965.4	-	2	1269	c.780A>G	c.(778-780)ccA>ccG	p.P260P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	260					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGGTGATGATGGAACATACA	0.403																																																	0													142.0	137.0	139.0					4																	36230329		2203	4300	6503	SO:0001819	synonymous_variant	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.780A>G	4.37:g.36230329T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.P260	ENST00000303965.4	37	c.780	CCDS3441.1	4																																																																																			ARAP2	-	NULL		0.403	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	T	NM_015230		36230329	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	silent	SNP	0.004	C
ARFGEF1	10565	genome.wustl.edu	37	8	68140257	68140257	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:68140257C>T	ENST00000262215.3	-	25	3921	c.3532G>A	c.(3532-3534)Gga>Aga	p.G1178R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G632R|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.G16R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1178					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTATTCTTCCCATGTTGTAA	0.333																																																	0													104.0	101.0	102.0					8																	68140257		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3532G>A	8.37:g.68140257C>T	ENSP00000262215:p.Gly1178Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.G1178R	ENST00000262215.3	37	c.3532	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038185	0.54896	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.06	4.17	0.49024	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.46157	1.445	0.58432	D	0.999991	D;P;P	0.52996	0.957;0.955;0.955	P;P;P	0.55345	0.771;0.774;0.774	T	0.59231	-0.7493	10	0.66056	D	0.02	.	14.8025	0.69926	0.1454:0.8546:0.0:0.0	.	1178;656;632	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	R	632;1178;16;27	ENSP00000428429:G632R;ENSP00000262215:G1178R;ENSP00000430891:G16R;ENSP00000429138:G27R	ENSP00000262215:G1178R	G	-	1	0	ARFGEF1	68302811	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.070000	0.71220	1.093000	0.41377	-0.188000	0.12872	GGA	ARFGEF1	-	superfamily_ARM-type_fold		0.333	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68140257	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFGEF2	10564	genome.wustl.edu	37	20	47591314	47591314	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:47591314G>A	ENST00000371917.4	+	13	1677	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	559					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCTCAGCCTGAGGAAGAAAG	0.522																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													89.0	78.0	82.0					20																	47591314		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1677G>A	20.37:g.47591314G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L559	ENST00000371917.4	37	c.1677	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold		0.522	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47591314	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	silent	SNP	1.000	A
ARHGAP4	393	genome.wustl.edu	37	X	153187188	153187188	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153187188C>G	ENST00000350060.5	-	2	183	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E48Q|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E25Q|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E48Q|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E48Q	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	48	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCAGCTCCTGCAGCAAC	0.692																																																	0													8.0	9.0	9.0					X																	153187188		2175	4257	6432	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.142G>C	X.37:g.153187188C>G	ENSP00000203786:p.Glu48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E48Q	ENST00000350060.5	37	c.142	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279006	0.80692	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.53206	2.26;0.63;0.63;0.63;0.63;0.63;0.63	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.45126	D	0.000398	T	0.62841	0.2461	L	0.49126	1.545	0.54753	D	0.999989	D;D	0.67145	0.996;0.996	D;D	0.66847	0.947;0.947	T	0.66348	-0.5946	10	0.87932	D	0	.	16.5899	0.84762	0.0:1.0:0.0:0.0	.	48;48	Q86UY3;P98171	.;RHG04_HUMAN	Q	48;48;48;48;25;25;25	ENSP00000377322:E48Q;ENSP00000359045:E48Q;ENSP00000203786:E48Q;ENSP00000359033:E48Q;ENSP00000444169:E25Q;ENSP00000398259:E25Q;ENSP00000413782:E25Q	ENSP00000203786:E48Q	E	-	1	0	ARHGAP4	152840382	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.753000	0.68736	2.262000	0.75019	0.436000	0.28706	GAG	ARHGAP4	-	pfam_FCH,smart_FCH,pfscan_FCH		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153187188	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGEF10L	55160	genome.wustl.edu	37	1	17975110	17975110	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:17975110C>G	ENST00000361221.3	+	22	2493	c.2334C>G	c.(2332-2334)ttC>ttG	p.F778L	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.F481L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.F739L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.F773L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.F551L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.F739L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	778						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGCCCCATTCTGGTGCCCGA	0.622																																																	0													80.0	73.0	75.0					1																	17975110		2203	4300	6503	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2334C>G	1.37:g.17975110C>G	ENSP00000355060:p.Phe778Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.F778L	ENST00000361221.3	37	c.2334	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225742	0.22542	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.59364	0.52;0.55;0.35;0.55;0.27;2.55	4.95	4.02	0.46733	.	0.235946	0.42548	D	0.000681	T	0.43255	0.1239	L	0.42245	1.32	0.45554	D	0.998505	B;B;B;B;B;B;B	0.26081	0.006;0.01;0.141;0.003;0.01;0.017;0.049	B;B;B;B;B;B;B	0.26517	0.005;0.023;0.07;0.002;0.018;0.07;0.032	T	0.20174	-1.0283	10	0.11182	T	0.66	-20.5594	8.3718	0.32419	0.0:0.8216:0.0:0.1784	.	551;773;481;539;734;739;778	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	L	778;739;773;739;551;551;481	ENSP00000355060:F778L;ENSP00000399401:F739L;ENSP00000394621:F773L;ENSP00000364564:F739L;ENSP00000364557:F551L;ENSP00000167825:F481L	ENSP00000167825:F481L	F	+	3	2	ARHGEF10L	17847697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.099000	0.31013	2.443000	0.82685	0.591000	0.81541	TTC	ARHGEF10L	-	NULL		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	C	NM_018125		17975110	+1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGEF11	9826	genome.wustl.edu	37	1	156916478	156916478	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156916478C>T	ENST00000361409.2	-	27	3292	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	ARHGEF11_ENST00000368194.3_Silent_p.E890E|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Silent_p.E266E	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	850	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAATCGACTCTCCTTGCGTT	0.527																																																	0													188.0	196.0	193.0					1																	156916478		2203	4300	6503	SO:0001819	synonymous_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2550G>A	1.37:g.156916478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E890	ENST00000361409.2	37	c.2670	CCDS1162.1	1																																																																																			ARHGEF11	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156916478	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	silent	SNP	1.000	T
ARHGEF11	9826	genome.wustl.edu	37	1	156927597	156927597	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156927597C>G	ENST00000361409.2	-	17	2135	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E505Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	465	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCTTCCTCATACTTGGAC	0.463																																																	0													251.0	197.0	215.0					1																	156927597		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1393G>C	1.37:g.156927597C>G	ENSP00000354644:p.Glu465Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E505Q	ENST00000361409.2	37	c.1513	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886736	0.51908	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.85013	-1.93;-1.93	4.93	4.93	0.64822	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.332879	0.25386	N	0.031053	D	0.85583	0.5730	M	0.78456	2.415	0.80722	D	1	P;P	0.49559	0.925;0.848	P;B	0.46718	0.525;0.39	D	0.88140	0.2844	10	0.72032	D	0.01	-23.2706	16.892	0.86090	0.0:1.0:0.0:0.0	.	465;505	O15085;O15085-2	ARHGB_HUMAN;.	Q	505;465	ENSP00000357177:E505Q;ENSP00000354644:E465Q	ENSP00000354644:E465Q	E	-	1	0	ARHGEF11	155194221	1.000000	0.71417	0.974000	0.42286	0.066000	0.16364	4.873000	0.63057	2.567000	0.86603	0.655000	0.94253	GAG	ARHGEF11	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.463	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156927597	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	0.999	G
ARHGEF15	22899	genome.wustl.edu	37	17	8218800	8218800	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:8218800C>G	ENST00000361926.3	+	7	1439	c.1329C>G	c.(1327-1329)ttC>ttG	p.F443L	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.F443L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	443	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617																																																	0													117.0	105.0	109.0					17																	8218800		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1329C>G	17.37:g.8218800C>G	ENSP00000355026:p.Phe443Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.F443L	ENST00000361926.3	37	c.1329	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	c	23.7	4.450627	0.84101	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.39056	1.1;1.1	5.04	-4.94	0.03057	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.85630	2.765	0.40240	D	0.977941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66909	-0.5804	10	0.87932	D	0	-24.3701	12.0728	0.53626	0.0:0.2294:0.0:0.7706	.	443;443	D3DTR7;O94989	.;ARHGF_HUMAN	L	443;233;443	ENSP00000355026:F443L;ENSP00000412505:F443L	ENSP00000355026:F443L	F	+	3	2	ARHGEF15	8159525	0.013000	0.17824	0.937000	0.37676	0.981000	0.71138	-1.001000	0.03690	-0.843000	0.04189	0.561000	0.74099	TTC	ARHGEF15	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	C	NM_173728		8218800	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	0.885	G
ARID1A	8289	genome.wustl.edu	37	1	27089730	27089730	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:27089730G>C	ENST00000324856.7	+	8	3057	c.2686G>C	c.(2686-2688)Gaa>Caa	p.E896Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.E896Q|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Missense_Mutation_p.E513Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	896					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAAAACCCAAGAAACTGCTGT	0.537			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													48.0	45.0	46.0					1																	27089730		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2686G>C	1.37:g.27089730G>C	ENSP00000320485:p.Glu896Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E896Q	ENST00000324856.7	37	c.2686	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457618	0.63401	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03124	4.13;4.05;4.04	5.65	5.65	0.86999	.	0.153130	0.64402	D	0.000019	T	0.07143	0.0181	L	0.54323	1.7	0.80722	D	1	P;P;P	0.45827	0.791;0.867;0.791	B;B;B	0.41510	0.196;0.359;0.196	T	0.34775	-0.9815	10	0.32370	T	0.25	-9.3683	19.9142	0.97043	0.0:0.0:1.0:0.0	.	896;896;550	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Q	896;896;513	ENSP00000320485:E896Q;ENSP00000387636:E896Q;ENSP00000363267:E513Q	ENSP00000320485:E896Q	E	+	1	0	ARID1A	26962317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.170000	0.94795	2.941000	0.99782	0.655000	0.94253	GAA	ARID1A	-	NULL		0.537	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27089730	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID2	196528	genome.wustl.edu	37	12	46231410	46231410	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:46231410C>T	ENST00000334344.6	+	10	1422	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S268L|ARID2_ENST00000444670.1_Missense_Mutation_p.S46L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	417					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTTGTAATCTCAACACTCGAG	0.393			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													129.0	119.0	122.0					12																	46231410		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1250C>T	12.37:g.46231410C>T	ENSP00000335044:p.Ser417Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S417L	ENST00000334344.6	37	c.1250	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785545	0.49997	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.49432	0.78;0.78	5.29	5.29	0.74685	.	0.076649	0.53938	D	0.000055	T	0.52677	0.1749	L	0.44542	1.39	0.80722	D	1	D;B;D	0.54964	0.969;0.355;0.958	P;B;P	0.50934	0.654;0.223;0.549	T	0.49844	-0.8896	10	0.39692	T	0.17	-11.1461	18.9364	0.92588	0.0:1.0:0.0:0.0	.	417;268;417	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	L	417;268;46	ENSP00000335044:S417L;ENSP00000415650:S268L	ENSP00000335044:S417L	S	+	2	0	ARID2	44517677	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.999000	0.70665	2.476000	0.83614	0.305000	0.20034	TCA	ARID2	-	superfamily_ARM-type_fold		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46231410	+1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	T
ARMC2	84071	genome.wustl.edu	37	6	109232115	109232115	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:109232115G>C	ENST00000392644.4	+	9	1205	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	ARMC2_ENST00000368972.3_Missense_Mutation_p.R181T	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	346										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAGTGAGTAGAAAGAATCTT	0.303																																																	0													36.0	37.0	37.0					6																	109232115		2200	4293	6493	SO:0001583	missense	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1037G>C	6.37:g.109232115G>C	ENSP00000376417:p.Arg346Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.R346T	ENST00000392644.4	37	c.1037	CCDS5069.2	6	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757521	0.49468	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.32753	1.44;1.45	5.19	5.19	0.71726	.	0.096535	0.64402	D	0.000001	T	0.14570	0.0352	L	0.36672	1.1	0.29822	N	0.830758	B	0.27625	0.183	B	0.19666	0.026	T	0.05903	-1.0857	10	0.45353	T	0.12	.	18.7136	0.91667	0.0:0.0:1.0:0.0	.	346	Q8NEN0	ARMC2_HUMAN	T	181;346	ENSP00000357968:R181T;ENSP00000376417:R346T	ENSP00000357968:R181T	R	+	2	0	ARMC2	109338808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.324000	0.65863	2.394000	0.81467	0.591000	0.81541	AGA	ARMC2	-	NULL		0.303	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	G	NM_032131		109232115	+1	no_errors	ENST00000392644	ensembl	human	known	70_37	missense	SNP	1.000	C
ARMC4	55130	genome.wustl.edu	37	10	28233243	28233243	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:28233243G>C	ENST00000305242.5	-	12	1743	c.1651C>G	c.(1651-1653)Cta>Gta	p.L551V	ARMC4_ENST00000545014.1_Missense_Mutation_p.L76V|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Missense_Mutation_p.L243V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	551					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAACATTTTAGACTCTTGTGT	0.453																																																	0													74.0	69.0	71.0					10																	28233243		2203	4300	6503	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1651C>G	10.37:g.28233243G>C	ENSP00000306410:p.Leu551Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.L551V	ENST00000305242.5	37	c.1651	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281613	0.10458	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.39997	1.05;1.05;1.05	5.34	4.44	0.53790	Armadillo-like helical (1);Armadillo-type fold (1);	0.137915	0.49916	D	0.000134	T	0.33731	0.0873	L	0.58428	1.81	0.80722	D	1	B;P	0.36577	0.209;0.558	B;B	0.32393	0.145;0.145	T	0.10019	-1.0648	10	0.12430	T	0.62	-12.9223	11.3669	0.49677	0.1466:0.0:0.8534:0.0	.	76;551	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	V	243;551;76	ENSP00000443208:L243V;ENSP00000306410:L551V;ENSP00000441076:L76V	ENSP00000306410:L551V	L	-	1	2	ARMC4	28273249	1.000000	0.71417	0.986000	0.45419	0.212000	0.24457	3.730000	0.55006	1.401000	0.46761	0.585000	0.79938	CTA	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28233243	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	missense	SNP	0.997	C
ARNT	405	genome.wustl.edu	37	1	150789274	150789274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:150789274C>A	ENST00000358595.5	-	18	1992	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	ARNT_ENST00000515192.1_Nonsense_Mutation_p.E584*|ARNT_ENST00000354396.2_Nonsense_Mutation_p.E598*|ARNT_ENST00000505755.1_Nonsense_Mutation_p.E583*	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	598					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAAATTCTCTGCCGGCCGG	0.527			T	ETV6	AML																																			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													72.0	74.0	73.0					1																	150789274		2203	4300	6503	SO:0001587	stop_gained	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1792G>T	1.37:g.150789274C>A	ENSP00000351407:p.Glu598*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Nonsense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.E598*	ENST00000358595.5	37	c.1792	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.529018	0.98339	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	5.82	5.82	0.92795	.	1.087730	0.06908	N	0.807109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	598;598;584;550;583	.	ENSP00000346372:E598X	E	-	1	0	ARNT	149055898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.258000	0.65479	2.767000	0.95098	0.655000	0.94253	GAG	ARNT	-	NULL		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	C			150789274	-1	no_errors	ENST00000358595	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARNT	405	genome.wustl.edu	37	1	150807072	150807072	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:150807072G>C	ENST00000358595.5	-	8	945	c.745C>G	c.(745-747)Cag>Gag	p.Q249E	ARNT_ENST00000515192.1_Missense_Mutation_p.Q240E|ARNT_ENST00000354396.2_Missense_Mutation_p.Q249E|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000505755.1_Missense_Mutation_p.Q234E	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	249					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGACTGCTGACCTTCCTTT	0.463			T	ETV6	AML																																			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													198.0	170.0	180.0					1																	150807072		2203	4300	6503	SO:0001583	missense	405			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.745C>G	1.37:g.150807072G>C	ENSP00000351407:p.Gln249Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.Q249E	ENST00000358595.5	37	c.745	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837165	0.91117	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05139	3.59;3.59;3.61;3.49	5.61	5.61	0.85477	PAS fold (1);	0.370808	0.31909	N	0.006874	T	0.08758	0.0217	L	0.33668	1.02	0.58432	D	0.999991	D;P;D;P;P;P;D	0.54772	0.968;0.904;0.968;0.73;0.758;0.936;0.968	P;P;P;P;P;P;P	0.60286	0.872;0.578;0.872;0.57;0.57;0.669;0.872	T	0.42632	-0.9440	10	0.26408	T	0.33	.	19.6376	0.95740	0.0:0.0:1.0:0.0	.	233;249;234;249;240;234;249	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	E	249;249;249;240;233;234	ENSP00000351407:Q249E;ENSP00000346372:Q249E;ENSP00000423851:Q240E;ENSP00000427571:Q234E	ENSP00000346372:Q249E	Q	-	1	0	ARNT	149073696	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.149000	0.71795	2.643000	0.89663	0.467000	0.42956	CAG	ARNT	-	pfam_PAS_fold		0.463	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	G			150807072	-1	no_errors	ENST00000358595	ensembl	human	known	70_37	missense	SNP	1.000	C
ASAP1	50807	genome.wustl.edu	37	8	131088615	131088615	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:131088615G>A	ENST00000518721.1	-	27	2907	c.2680C>T	c.(2680-2682)Ctt>Ttt	p.L894F	ASAP1_ENST00000357668.1_Missense_Mutation_p.L894F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	894	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGTTTAGGAAGAACTCTTGGG	0.373																																																	0													85.0	84.0	84.0					8																	131088615		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2680C>T	8.37:g.131088615G>A	ENSP00000429900:p.Leu894Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L894F	ENST00000518721.1	37	c.2680	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.601708|3.601708	0.66445|0.66445	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.07567|.	3.18;3.18|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	0.447010|.	0.19932|.	N|.	0.102829|.	T|T	0.60702|0.60702	0.2289|0.2289	L|L	0.53249|0.53249	1.67|1.67	0.51482|0.51482	D|D	0.999922|0.999922	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.85130|.	0.994;0.994;0.997|.	T|T	0.58645|0.58645	-0.7600|-0.7600	10|5	0.27082|.	T|.	0.32|.	.|.	10.7327|10.7327	0.46107|0.46107	0.0885:0.0:0.9115:0.0|0.0885:0.0:0.9115:0.0	.|.	894;894;897|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	F|F	897;894;894|714;250	ENSP00000350297:L894F;ENSP00000429900:L894F|.	ENSP00000344591:L897F|.	L|S	-|-	1|2	0|0	ASAP1|ASAP1	131157797|131157797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.731000|6.731000	0.74785|0.74785	1.452000|1.452000	0.47756|0.47756	-0.163000|-0.163000	0.13421|0.13421	CTT|TCT	ASAP1	-	NULL		0.373	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	G	NM_018482		131088615	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	missense	SNP	1.000	A
ASPHD1	253982	genome.wustl.edu	37	16	29912882	29912882	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:29912882C>T	ENST00000308748.5	+	1	842	c.590C>T	c.(589-591)tCa>tTa	p.S197L	SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	197					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GACCTGCCTTCAGCCCCCTTT	0.672																																																	0													59.0	63.0	61.0					16																	29912882		2177	4264	6441	SO:0001583	missense	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.590C>T	16.37:g.29912882C>T	ENSP00000311447:p.Ser197Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.S197L	ENST00000308748.5	37	c.590	CCDS10660.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226181	0.79576	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.50548	0.74;0.74	5.74	3.78	0.43462	.	0.294711	0.29034	N	0.013352	T	0.38772	0.1053	N	0.24115	0.695	0.33780	D	0.624128	D	0.54207	0.965	P	0.47528	0.549	T	0.54951	-0.8216	10	0.72032	D	0.01	-11.2369	10.0483	0.42199	0.1378:0.7897:0.0:0.0725	.	197	Q5U4P2	ASPH1_HUMAN	L	197	ENSP00000388036:S197L;ENSP00000311447:S197L	ENSP00000311447:S197L	S	+	2	0	ASPHD1	29820383	0.048000	0.20356	0.562000	0.28370	0.962000	0.63368	2.234000	0.43035	0.765000	0.33221	0.563000	0.77884	TCA	ASPHD1	-	NULL		0.672	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	C	NM_181718		29912882	+1	no_errors	ENST00000308748	ensembl	human	known	70_37	missense	SNP	0.594	T
ASPM	259266	genome.wustl.edu	37	1	197094291	197094291	+	Nonsense_Mutation	SNP	C	C	T	rs199422152		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:197094291C>T	ENST00000367409.4	-	11	3223	c.2967G>A	c.(2965-2967)tgG>tgA	p.W989*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.W239*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.W989*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	989	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGAGAGGTCCCAGTTCTGTG	0.363																																																	0													101.0	99.0	100.0					1																	197094291		2203	4300	6503	SO:0001587	stop_gained	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2967G>A	1.37:g.197094291C>T	ENSP00000356379:p.Trp989*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.W989*	ENST00000367409.4	37	c.2967	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.245195	0.99367	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	.	.	.	5.59	5.59	0.84812	.	0.166059	0.44097	D	0.000483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	989;989;239	.	ENSP00000294732:W989X	W	-	3	0	ASPM	195360914	1.000000	0.71417	0.975000	0.42487	0.672000	0.39443	7.304000	0.78882	2.797000	0.96272	0.563000	0.77884	TGG	ASPM	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197094291	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ASPSCR1	79058	genome.wustl.edu	37	17	79973128	79973128	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79973128C>T	ENST00000306739.4	+	13	1450				ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P511S|ASPSCR1_ENST00000582404.1_3'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGTCAGCCTCCATGCCACCC	0.637			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													83.0	82.0	83.0					17																	79973128		875	1991	2866	SO:0001627	intron_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1354-1224C>T	17.37:g.79973128C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.P511S	ENST00000306739.4	37	c.1531	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	c	5.256	0.232740	0.09969	.	.	ENSG00000169696	ENST00000306729	T	0.25912	1.77	0.597	-1.19	0.09585	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.09310	N	0.999999	B	0.26445	0.149	B	0.17098	0.017	T	0.27502	-1.0072	6	.	.	.	.	.	.	.	.	511	Q9BZE9-2	.	S	511	ENSP00000306625:P511S	.	P	+	1	0	ASPSCR1	77566417	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.507000	0.00961	-1.303000	0.02332	-0.642000	0.03964	CCA	ASPSCR1	-	NULL		0.637	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	C	NM_024083		79973128	+1	no_errors	ENST00000306729	ensembl	human	known	70_37	missense	SNP	0.000	T
ASXL2	55252	genome.wustl.edu	37	2	25966982	25966982	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:25966982C>T	ENST00000435504.4	-	13	2517	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	ASXL2_ENST00000272341.4_Missense_Mutation_p.E482K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E482K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E714K			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	742					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAAAGCTCTCTCGTACCT	0.572																																																	0													103.0	106.0	105.0					2																	25966982		2022	4179	6201	SO:0001583	missense	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2224G>A	2.37:g.25966982C>T	ENSP00000391447:p.Glu742Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E742K	ENST00000435504.4	37	c.2224		2	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566448	0.27915	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18016	2.24;2.24;2.25;2.25	5.94	5.94	0.96194	.	0.640407	0.15175	N	0.276424	T	0.28167	0.0695	L	0.51422	1.61	0.33147	D	0.545139	P;D	0.60575	0.617;0.988	B;P	0.54759	0.242;0.76	T	0.10109	-1.0644	10	0.27082	T	0.32	-22.3937	13.2099	0.59819	0.0:0.9235:0.0:0.0765	.	482;742	Q76L83-2;Q76L83	.;ASXL2_HUMAN	K	742;714;482;482	ENSP00000391447:E742K;ENSP00000337250:E714K;ENSP00000383920:E482K;ENSP00000272341:E482K	ENSP00000272341:E482K	E	-	1	0	ASXL2	25820486	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.835000	0.55805	2.816000	0.96949	0.563000	0.77884	GAG	ASXL2	-	NULL		0.572	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	C	NM_018263		25966982	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	missense	SNP	1.000	T
ASTL	431705	genome.wustl.edu	37	2	96803369	96803369	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:96803369G>C	ENST00000342380.2	-	2	125	c.126C>G	c.(124-126)ctC>ctG	p.L42L		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCAGGGGTGAGGCCATCTG	0.612																																																	0													122.0	108.0	113.0					2																	96803369		2203	4300	6503	SO:0001819	synonymous_variant	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.126C>G	2.37:g.96803369G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.L42	ENST00000342380.2	37	c.126	CCDS33249.1	2																																																																																			ASTL	-	NULL		0.612	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	G			96803369	-1	no_errors	ENST00000342380	ensembl	human	known	70_37	silent	SNP	0.000	C
C6orf136	221545	genome.wustl.edu	37	6	30614559	30614559	+	5'Flank	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:30614559C>A	ENST00000376473.5	+	0	0				ATAT1_ENST00000330083.5_3'UTR|ATAT1_ENST00000376478.2_3'UTR|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376485.4_3'UTR|C6orf136_ENST00000293604.6_5'Flank|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000376471.4_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCATTTGTATCTTTTAACCAG	0.388																																																	0																																										SO:0001631	upstream_gene_variant	79969			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30614559C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	RNA	SNP	-	NULL	ENST00000376473.5	37	NULL	CCDS43443.1	6																																																																																			ATAT1	-	-		0.388	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAT1	HGNC	protein_coding	OTTHUMT00000076457.4	C	NM_145029		30614559	+1	no_errors	ENST00000468713	ensembl	human	known	70_37	rna	SNP	0.609	A
ATF7IP2	80063	genome.wustl.edu	37	16	10565998	10565998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:10565998G>T	ENST00000396560.2	+	8	1611	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*	ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E462*|ATF7IP2_ENST00000543967.1_Nonsense_Mutation_p.E6*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GATTTCTGTGGAAAGTCCTAA	0.284																																																	0													82.0	77.0	78.0					16																	10565998		2195	4289	6484	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1384G>T	16.37:g.10565998G>T	ENSP00000379808:p.Glu462*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3	p.E462*	ENST00000396560.2	37	c.1384	CCDS10540.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.450513	0.98817	.	.	ENSG00000166669	ENST00000396559;ENST00000543967;ENST00000396560;ENST00000356427;ENST00000324570	.	.	.	4.37	3.38	0.38709	.	0.381567	0.22199	N	0.063270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.6719	8.6926	0.34275	0.1116:0.0:0.8884:0.0	.	.	.	.	X	462;6;462;462;462	.	ENSP00000322811:E462X	E	+	1	0	ATF7IP2	10473499	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.785000	0.47782	0.794000	0.33899	0.484000	0.47621	GAA	ATF7IP2	-	NULL		0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	G	NM_024997		10565998	+1	no_errors	ENST00000356427	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATG13	9776	genome.wustl.edu	37	11	46690371	46690371	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46690371G>C	ENST00000434074.1	+	15	1947	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	ATG13_ENST00000312040.4_Missense_Mutation_p.E420Q|ATG13_ENST00000529655.1_Missense_Mutation_p.E383Q|ATG13_ENST00000530500.1_Missense_Mutation_p.E304Q|ATG13_ENST00000526508.1_Missense_Mutation_p.E420Q|ATG13_ENST00000524625.1_Missense_Mutation_p.E383Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E453Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E420Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E383Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	420					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCCAGAGACTGAATCTCCTCT	0.493																																																	0													121.0	109.0	113.0					11																	46690371		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1258G>C	11.37:g.46690371G>C	ENSP00000400642:p.Glu420Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.E420Q	ENST00000434074.1	37	c.1258	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303357	0.10678	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.95	4.04	0.47022	.	0.925683	0.09395	N	0.808015	T	0.32133	0.0819	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.26635	0.001;0.082;0.155;0.066	B;B;B;B	0.21917	0.001;0.037;0.037;0.028	T	0.21793	-1.0235	9	0.11182	T	0.66	0.9157	11.3195	0.49412	0.1513:0.0:0.8487:0.0	.	304;420;453;383	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	Q	383;420;420;383;383;304;420;383;420;453;152	.	ENSP00000310321:E420Q	E	+	1	0	ATG13	46646947	0.155000	0.22806	0.001000	0.08648	0.030000	0.12068	3.037000	0.49775	0.805000	0.34159	0.655000	0.94253	GAA	ATG13	-	NULL		0.493	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	G	NM_014741		46690371	+1	no_errors	ENST00000312040	ensembl	human	known	70_37	missense	SNP	0.001	C
ATG4C	84938	genome.wustl.edu	37	1	63329772	63329772	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:63329772C>T	ENST00000317868.4	+	11	1526	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	ATG4C_ENST00000371120.3_Missense_Mutation_p.S440L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	440					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GACCTTTTTTCAGAGGATGAA	0.308																																																	0													61.0	64.0	63.0					1																	63329772		2201	4294	6495	SO:0001583	missense	84938			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1319C>T	1.37:g.63329772C>T	ENSP00000322159:p.Ser440Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	pfam_Peptidase_C54	p.S440L	ENST00000317868.4	37	c.1319	CCDS623.1	1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946762	0.34377	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.63255	-0.03;-0.03	5.37	3.47	0.39725	.	0.275476	0.34200	N	0.004166	T	0.34600	0.0903	L	0.51422	1.61	0.33544	D	0.595227	B	0.06786	0.001	B	0.06405	0.002	T	0.12116	-1.0560	10	0.21014	T	0.42	-2.4406	12.3871	0.55338	0.0:0.8597:0.0:0.1403	.	440	Q96DT6	ATG4C_HUMAN	L	440	ENSP00000322159:S440L;ENSP00000360161:S440L	ENSP00000322159:S440L	S	+	2	0	ATG4C	63102360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.590000	0.36654	0.611000	0.30052	0.585000	0.79938	TCA	ATG4C	-	NULL		0.308	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4C	HGNC	protein_coding	OTTHUMT00000025332.2	C	NM_032852		63329772	+1	no_errors	ENST00000317868	ensembl	human	known	70_37	missense	SNP	1.000	T
ATMIN	23300	genome.wustl.edu	37	16	81078778	81078778	+	3'UTR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:81078778C>G	ENST00000299575.4	+	0	2699				ATMIN_ENST00000564241.1_3'UTR|ATMIN_ENST00000566488.1_3'UTR|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor						cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGATGTTGATCTAAATTGTTT	0.294																																																	0																																										SO:0001624	3_prime_UTR_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.*203C>G	16.37:g.81078778C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4H8|Q68DC9	RNA	SNP	-	NULL	ENST00000299575.4	37	NULL	CCDS32494.1	16																																																																																			ATMIN	-	-		0.294	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	C	NM_015251		81078778	+1	no_errors	ENST00000539819	ensembl	human	putative	70_37	rna	SNP	0.001	G
ATP13A5	344905	genome.wustl.edu	37	3	193081033	193081033	+	Missense_Mutation	SNP	C	C	G	rs139502900		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:193081033C>G	ENST00000342358.4	-	3	493	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	126						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTTTAATTCTGGCTTTATT	0.378																																																	0													106.0	103.0	104.0					3																	193081033		2203	4300	6503	SO:0001583	missense	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.376G>C	3.37:g.193081033C>G	ENSP00000341942:p.Glu126Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.E126Q	ENST00000342358.4	37	c.376	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644462	0.29246	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.34667	1.35;1.35	5.12	5.12	0.69794	.	0.166824	0.42294	D	0.000731	T	0.29556	0.0737	L	0.34521	1.04	0.38137	D	0.938339	B	0.32382	0.368	B	0.38327	0.271	T	0.08411	-1.0723	10	0.13470	T	0.59	-20.1453	12.61	0.56546	0.0:0.8325:0.1675:0.0	.	126	Q4VNC0	AT135_HUMAN	Q	126;148	ENSP00000341942:E126Q;ENSP00000389416:E148Q	ENSP00000341942:E126Q	E	-	1	0	ATP13A5	194563727	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	1.776000	0.38594	2.770000	0.95276	0.650000	0.86243	GAA	ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.378	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	C	NM_198505		193081033	-1	no_errors	ENST00000342358	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP8B5P	158381	genome.wustl.edu	37	9	35450039	35450039	+	RNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:35450039C>T	ENST00000430846.1	+	0	2889									ATPase, class I, type 8B, member 5, pseudogene																		AGCATCTTCTCAATTGGACAG	0.448																																																	0																																												158381					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450039C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-		0.448	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	C	NR_003581.1		35450039	+1	no_errors	ENST00000430846	ensembl	human	known	70_37	rna	SNP	0.772	T
ATR	545	genome.wustl.edu	37	3	142178163	142178163	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:142178163C>T	ENST00000350721.4	-	43	7376	c.7255G>A	c.(7255-7257)Gaa>Aaa	p.E2419K	ATR_ENST00000383101.3_Missense_Mutation_p.E2355K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2419	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E2419K(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTGAGTTTTTCAGATAAAGCT	0.418								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	lung(1)											68.0	66.0	67.0					3																	142178163		2203	4300	6503	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7255G>A	3.37:g.142178163C>T	ENSP00000343741:p.Glu2419Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.E2419K	ENST00000350721.4	37	c.7255	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454718	0.43634	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03607	3.87;3.9	4.58	4.58	0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.03390	0.0098	N	0.11845	0.185	0.80722	D	1	B	0.31256	0.316	B	0.34489	0.184	T	0.61068	-0.7137	10	0.25751	T	0.34	-6.5998	17.7085	0.88315	0.0:1.0:0.0:0.0	.	2419	Q13535	ATR_HUMAN	K	2419;2355	ENSP00000343741:E2419K;ENSP00000372581:E2355K	ENSP00000343741:E2419K	E	-	1	0	ATR	143660853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.957000	0.70323	2.265000	0.75225	0.491000	0.48974	GAA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.418	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	C	NM_001184		142178163	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	T
ATRIP	84126	genome.wustl.edu	37	3	48506952	48506952	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48506952G>A	ENST00000320211.3	+	13	2488	c.2375G>A	c.(2374-2376)tGa>tAa	p.*792*	TREX1_ENST00000436480.2_5'Flank|ATRIP_ENST00000412052.1_Silent_p.*699*|ATRIP_ENST00000357105.6_Silent_p.*665*|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank|ATRIP_ENST00000346691.4_Silent_p.*765*|TREX1_ENST00000296443.9_5'UTR|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000422277.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	0					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGTGTGGCTGAGGCCCTGAG	0.577								Other conserved DNA damage response genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84.0	72.0	76.0					3																	48506952		2203	4300	6503	SO:0001819	synonymous_variant	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2375G>A	3.37:g.48506952G>A		Somatic	955	WXS	Illumina HiSeq	Phase_IV	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Silent	SNP	NULL	p.*792	ENST00000320211.3	37	c.2375	CCDS2768.1	3																																																																																			ATRIP	-	NULL		0.577	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48506952	+1	no_errors	ENST00000320211	ensembl	human	known	70_37	silent	SNP	0.997	A
ATR	545	genome.wustl.edu	37	3	142184050	142184050	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:142184050C>G	ENST00000350721.4	-	41	7051	c.6930G>C	c.(6928-6930)aaG>aaC	p.K2310N	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.K2246N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2310					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K2310N(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGAAATCTTCTTTGGTTTCT	0.318								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	urinary_tract(1)											69.0	65.0	66.0					3																	142184050		2202	4296	6498	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6930G>C	3.37:g.142184050C>G	ENSP00000343741:p.Lys2310Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.K2310N	ENST00000350721.4	37	c.6930	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696274|3.696274	0.68386|0.68386	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.89343	.|-2.5;-2.5	5.22|5.22	4.14|4.14	0.48551|0.48551	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95245|0.95245	0.8458|0.8458	H|H	0.94423|0.94423	3.535|3.535	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66602	.|0.945	D|D	0.95895|0.95895	0.8910|0.8910	5|10	.|0.87932	.|D	.|0	-2.2188|-2.2188	12.4896|12.4896	0.55893|0.55893	0.0:0.8668:0.0:0.1332|0.0:0.8668:0.0:0.1332	.|.	.|2310	.|Q13535	.|ATR_HUMAN	Q|N	157|2310;2246	.|ENSP00000343741:K2310N;ENSP00000372581:K2246N	.|ENSP00000343741:K2310N	E|K	-|-	1|3	0|2	ATR|ATR	143666740|143666740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.179000|3.179000	0.50887|0.50887	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GAA|AAG	ATR	-	superfamily_Kinase-like_dom		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	C	NM_001184		142184050	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	G
ATRNL1	26033	genome.wustl.edu	37	10	117059712	117059712	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:117059712C>T	ENST00000355044.3	+	16	2710	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	862	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAAGCTAATCCTTGTACATC	0.423																																																	0													80.0	79.0	79.0					10																	117059712		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2584C>T	10.37:g.117059712C>T	ENSP00000347152:p.Pro862Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.P862S	ENST00000355044.3	37	c.2584	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067755	0.55539	.	.	ENSG00000107518	ENST00000355044	T	0.17370	2.28	5.45	5.45	0.79879	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01956	-1.1240	10	0.12430	T	0.62	-13.0213	19.653	0.95825	0.0:1.0:0.0:0.0	.	862	Q5VV63	ATRN1_HUMAN	S	862	ENSP00000347152:P862S	ENSP00000347152:P862S	P	+	1	0	ATRNL1	117049702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.721000	0.93114	0.585000	0.79938	CCT	ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.423	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117059712	+1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76938516	76938516	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:76938516C>T	ENST00000373344.5	-	9	2446	c.2232G>A	c.(2230-2232)atG>atA	p.M744I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M706I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	744					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						AACTGTGACTCATCCTGCTCA	0.358			"""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)											135.0	133.0	134.0					X																	76938516		2203	4296	6499	SO:0001583	missense	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.2232G>A	X.37:g.76938516C>T	ENSP00000362441:p.Met744Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M744I	ENST00000373344.5	37	c.2232	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	5.678	0.309722	0.10733	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92805	-3.1;-3.11	5.95	5.09	0.68999	.	0.253954	0.39475	N	0.001354	D	0.90000	0.6878	L	0.55481	1.735	0.80722	D	1	B;P;B;B	0.35774	0.146;0.519;0.004;0.146	B;B;B;B	0.37480	0.057;0.251;0.006;0.057	D	0.87618	0.2508	10	0.33141	T	0.24	-4.8744	14.2466	0.65993	0.0:0.9271:0.0:0.0729	.	744;676;706;744	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	I	744;706;671	ENSP00000362441:M744I;ENSP00000378967:M706I	ENSP00000362441:M744I	M	-	3	0	ATRX	76825172	0.943000	0.32029	0.908000	0.35775	0.820000	0.46376	0.796000	0.26986	1.265000	0.44215	-0.312000	0.09012	ATG	ATRX	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76938516	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	1.000	T
HTRA2	27429	genome.wustl.edu	37	2	74756717	74756717	+	5'UTR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:74756717C>G	ENST00000258080.3	+	0	214				AUP1_ENST00000377526.3_Missense_Mutation_p.D14H|HTRA2_ENST00000352222.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGGTGCGAGTCAAAGAGCCGC	0.716																																																	0													12.0	19.0	17.0					2																	74756717		1823	4041	5864	SO:0001623	5_prime_UTR_variant	550				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-417C>G	2.37:g.74756717C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_CUE,smart_CUE,pfscan_CUE	p.D14H	ENST00000258080.3	37	c.40	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983817	0.74474	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.84	5.84	0.93424	.	0.112930	0.64402	D	0.000020	T	0.62889	0.2465	N	0.16903	0.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.971	T	0.66578	-0.5888	9	0.62326	D	0.03	-11.2155	15.6279	0.76878	0.0:1.0:0.0:0.0	.	14;14	B4DW71;Q9Y679-2	.;.	H	14	.	ENSP00000258081:D14H	D	-	1	0	AUP1	74610225	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.643000	0.54374	2.768000	0.95171	0.561000	0.74099	GAC	AUP1	-	NULL		0.716	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUP1	HGNC	protein_coding	OTTHUMT00000252219.2	C	NM_013247		74756717	-1	no_errors	ENST00000377526	ensembl	human	known	70_37	missense	SNP	1.000	G
AUTS2	26053	genome.wustl.edu	37	7	70254876	70254876	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:70254876G>C	ENST00000342771.4	+	19	2995	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.E868Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	892										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAAACCCAAAGAGAGGGAGAG	0.627																																																	0													49.0	49.0	49.0					7																	70254876		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2674G>C	7.37:g.70254876G>C	ENSP00000344087:p.Glu892Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.E892Q	ENST00000342771.4	37	c.2674	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468011	0.63625	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.37411	1.25;1.2	5.07	5.07	0.68467	.	0.116692	0.56097	D	0.000026	T	0.42944	0.1225	L	0.52905	1.665	0.80722	D	1	B;D;D	0.56521	0.286;0.976;0.976	B;P;P	0.47251	0.221;0.542;0.542	T	0.32161	-0.9917	9	.	.	.	-15.1539	18.4886	0.90838	0.0:0.0:1.0:0.0	.	344;868;892	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	Q	868;892;172	ENSP00000385263:E868Q;ENSP00000344087:E892Q	.	E	+	1	0	AUTS2	69892812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.166000	0.94766	2.355000	0.79922	0.655000	0.94253	GAG	AUTS2	-	NULL		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	G			70254876	+1	no_errors	ENST00000342771	ensembl	human	known	70_37	missense	SNP	1.000	C
AXIN2	8313	genome.wustl.edu	37	17	63534325	63534325	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:63534325C>T	ENST00000375702.5	-	4	1304	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.R399Q			Q9Y2T1	AXIN2_HUMAN	axin 2	399	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CATTACCTCTCGGATCTGCTG	0.612									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													67.0	54.0	59.0					17																	63534325		2203	4300	6503	SO:0001583	missense	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1196G>A	17.37:g.63534325C>T	ENSP00000364854:p.Arg399Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R399Q	ENST00000375702.5	37	c.1196		17	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421550	0.43020	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.93659	-3.26;-3.26	4.68	2.54	0.30619	.	0.291643	0.34652	N	0.003788	T	0.82190	0.4983	N	0.10809	0.05	0.27568	N	0.949968	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.71629	-0.4535	10	0.44086	T	0.13	-11.4675	3.9645	0.09424	0.0:0.3667:0.377:0.2563	.	399;399;399	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	Q	399	ENSP00000302625:R399Q;ENSP00000364854:R399Q	ENSP00000302625:R399Q	R	-	2	0	AXIN2	60964787	0.983000	0.35010	0.976000	0.42696	0.872000	0.50106	1.535000	0.36061	1.191000	0.43056	0.555000	0.69702	CGA	AXIN2	-	NULL		0.612	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	C	NM_004655		63534325	-1	no_errors	ENST00000307078	ensembl	human	known	70_37	missense	SNP	0.944	T
BAIAP3	8938	genome.wustl.edu	37	16	1392586	1392586	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1392586C>T	ENST00000324385.5	+	12	1279	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	BAIAP3_ENST00000568887.1_Missense_Mutation_p.S311L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S316L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S356L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S339L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S356L|BAIAP3_ENST00000421665.2_Intron	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGTGCCTCGCGTGTGCAG	0.687																																																	0													26.0	22.0	23.0					16																	1392586		2163	4280	6443	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1121C>T	16.37:g.1392586C>T	ENSP00000324510:p.Ser374Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S374L	ENST00000324385.5	37	c.1121	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	c	16.33	3.093412	0.56075	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	4.9	3.94	0.45596	C2 calcium/lipid-binding domain, CaLB (1);	0.123128	0.56097	D	0.000030	D	0.87970	0.6312	M	0.84326	2.69	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.974;0.974;0.983	D	0.87656	0.2531	10	0.87932	D	0	-24.2184	7.1863	0.25801	0.0:0.7323:0.1727:0.0949	.	316;374;356	B4DIK3;O94812;A2A2B2	.;BAIP3_HUMAN;.	L	339;356;374;356	ENSP00000407242:S339L;ENSP00000380625:S356L;ENSP00000324510:S374L;ENSP00000380626:S356L	ENSP00000324510:S374L	S	+	2	0	BAIAP3	1332587	0.988000	0.35896	0.990000	0.47175	0.460000	0.32559	2.801000	0.47908	1.179000	0.42884	0.574000	0.79327	TCG	BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392586	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	T
BAIAP3	8938	genome.wustl.edu	37	16	1392626	1392626	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1392626C>T	ENST00000324385.5	+	12	1319	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	BAIAP3_ENST00000568887.1_Silent_p.I324I|BAIAP3_ENST00000562208.1_Silent_p.I329I|BAIAP3_ENST00000397488.2_Silent_p.I369I|BAIAP3_ENST00000426824.3_Silent_p.I352I|BAIAP3_ENST00000397489.1_Silent_p.I369I|BAIAP3_ENST00000421665.2_Intron	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	387					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCAAGCTGATCACTACGCAGG	0.662																																																	0													29.0	26.0	27.0					16																	1392626		2178	4290	6468	SO:0001819	synonymous_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1161C>T	16.37:g.1392626C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I387	ENST00000324385.5	37	c.1161	CCDS10434.1	16																																																																																			BAIAP3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.662	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	C			1392626	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	silent	SNP	1.000	T
BCOR	54880	genome.wustl.edu	37	X	39937175	39937175	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:39937175G>A	ENST00000378444.4	-	2	236	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BCOR_ENST00000397354.3_Missense_Mutation_p.S3L|BCOR_ENST00000378455.4_Missense_Mutation_p.S3L|BCOR_ENST00000342274.4_Missense_Mutation_p.S3L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	3					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGGTTGCTGAGAGCATGTC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													111.0	87.0	96.0					X																	39937175		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.8C>T	X.37:g.39937175G>A	ENSP00000367705:p.Ser3Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S3L	ENST00000378444.4	37	c.8	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530089	0.85706	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	T;T;T;T	0.61158	0.13;0.13;0.18;0.13	5.51	5.51	0.81932	.	.	.	.	.	T	0.66509	0.2796	L	0.29908	0.895	0.43152	D	0.994929	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.64833	-0.6314	8	.	.	.	-14.2594	18.4322	0.90630	0.0:0.0:1.0:0.0	.	3;3;3;3	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	L	3	ENSP00000367716:S3L;ENSP00000380512:S3L;ENSP00000367705:S3L;ENSP00000345923:S3L	.	S	-	2	0	BCOR	39822119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.292000	0.77174	0.513000	0.50165	TCA	BCOR	-	NULL		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39937175	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	1.000	A
BEX5	340542	genome.wustl.edu	37	X	101408943	101408943	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101408943G>C	ENST00000543160.1	-	3	596	c.295C>G	c.(295-297)Cct>Gct	p.P99A	BEX5_ENST00000484837.1_5'Flank|BEX5_ENST00000333643.3_Missense_Mutation_p.P99A	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	99						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P99S(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCATGGTGAGGAGGGTCCCCT	0.413																																																	1	Substitution - Missense(1)	lung(1)											249.0	189.0	210.0					X																	101408943		2203	4300	6503	SO:0001583	missense	340542			BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"""NGFRAP1-like 1"", ""BEX family member 5"""	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.295C>G	X.37:g.101408943G>C	ENSP00000446054:p.Pro99Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569J0|Q56A74	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.P99A	ENST00000543160.1	37	c.295	CCDS35350.1	X	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471131	0.43942	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.10192	2.9;2.9	4.0	3.12	0.35913	.	0.244133	0.21537	N	0.072948	T	0.22898	0.0553	M	0.76574	2.34	0.24009	N	0.996181	D	0.61697	0.99	P	0.57720	0.826	T	0.04440	-1.0951	10	0.62326	D	0.03	.	6.0961	0.20021	0.1415:0.0:0.8585:0.0	.	99	Q5H9J7	BEX5_HUMAN	A	99	ENSP00000446054:P99A;ENSP00000328030:P99A	ENSP00000328030:P99A	P	-	1	0	BEX5	101295599	0.996000	0.38824	0.977000	0.42913	0.859000	0.49053	1.394000	0.34509	1.040000	0.40099	0.544000	0.68410	CCT	BEX5	-	pfam_TF_A-like/BEX-like,pirsf_BEX		0.413	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BEX5	HGNC	protein_coding	OTTHUMT00000057607.1	G	XM_291335		101408943	-1	no_errors	ENST00000333643	ensembl	human	known	70_37	missense	SNP	0.971	C
BIRC6	57448	genome.wustl.edu	37	2	32693008	32693008	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:32693008G>A	ENST00000421745.2	+	28	5743	c.5609G>A	c.(5608-5610)aGa>aAa	p.R1870K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1870					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAAATGCCAGAGCCAAAATC	0.368																																					Pancreas(94;175 1509 16028 18060 45422)												0													65.0	66.0	65.0					2																	32693008		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5609G>A	2.37:g.32693008G>A	ENSP00000393596:p.Arg1870Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R1870K	ENST00000421745.2	37	c.5609	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377128	0.82682	.	.	ENSG00000115760	ENST00000421745	T	0.75704	-0.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	L	0.28649	0.875	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.80986	-0.1137	10	0.62326	D	0.03	.	20.3342	0.98733	0.0:0.0:1.0:0.0	.	1870	Q9NR09	BIRC6_HUMAN	K	1870	ENSP00000393596:R1870K	ENSP00000393596:R1870K	R	+	2	0	BIRC6	32546512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.623000	0.98386	2.822000	0.97130	0.650000	0.86243	AGA	BIRC6	-	superfamily_Galactose-bd-like		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32693008	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	A
BMPER	168667	genome.wustl.edu	37	7	34118526	34118526	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:34118526C>T	ENST00000297161.2	+	13	1510	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I	BMPER_ENST00000426693.1_Missense_Mutation_p.T379I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	379	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GACGGTCGGACATTTAACTTT	0.567																																																	0													94.0	101.0	99.0					7																	34118526		2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1136C>T	7.37:g.34118526C>T	ENSP00000297161:p.Thr379Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.T379I	ENST00000297161.2	37	c.1136	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007577	0.75046	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.61040	0.14;0.14	5.87	5.87	0.94306	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	N	0.25144	0.715	0.80722	D	1	P	0.40398	0.716	B	0.43052	0.406	T	0.38134	-0.9675	10	0.21014	T	0.42	.	20.2079	0.98282	0.0:1.0:0.0:0.0	.	379	Q8N8U9	BMPER_HUMAN	I	379	ENSP00000297161:T379I;ENSP00000393950:T379I	ENSP00000297161:T379I	T	+	2	0	BMPER	34085051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.781000	0.95711	0.655000	0.94253	ACA	BMPER	-	pfam_VWF_type-D,smart_VWF_type-D		0.567	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	C	NM_133468		34118526	+1	no_errors	ENST00000297161	ensembl	human	known	70_37	missense	SNP	1.000	T
BRS3	680	genome.wustl.edu	37	X	135574333	135574333	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:135574333G>C	ENST00000370648.3	+	3	1227	c.999G>C	c.(997-999)ctG>ctC	p.L333L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	333					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCTACTGGCTGAGCAAAAGCT	0.498																																																	0													155.0	142.0	147.0					X																	135574333		2203	4300	6503	SO:0001819	synonymous_variant	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.999G>C	X.37:g.135574333G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L333	ENST00000370648.3	37	c.999	CCDS14656.1	X																																																																																			BRS3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn		0.498	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	G	NM_001727		135574333	+1	no_errors	ENST00000370648	ensembl	human	known	70_37	silent	SNP	1.000	C
BRWD1	54014	genome.wustl.edu	37	21	40608645	40608645	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:40608645C>G	ENST00000333229.2	-	23	2969	c.2642G>C	c.(2641-2643)aGa>aCa	p.R881T	BRWD1_ENST00000342449.3_Missense_Mutation_p.R881T|BRWD1_ENST00000380800.3_Missense_Mutation_p.R881T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	881					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACATGATGTTCTTAAAGGAGG	0.408																																					Melanoma(170;988 1986 4794 16843 39731)												0													114.0	108.0	110.0					21																	40608645		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2642G>C	21.37:g.40608645C>G	ENSP00000330753:p.Arg881Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R881T	ENST00000333229.2	37	c.2642	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.001177|3.001177	0.54254|0.54254	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000455867|ENST00000333229;ENST00000342449;ENST00000380800	.|T;T;T	.|0.61980	.|0.06;0.06;0.06	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.82056|0.82056	2.57|2.57	0.09310|0.09310	N|N	1|1	.|D;P	.|0.76494	.|0.999;0.915	.|D;P	.|0.81914	.|0.995;0.468	T|T	0.72057|0.72057	-0.4405|-0.4405	5|10	.|0.72032	.|D	.|0.01	-6.0667|-6.0667	12.3543|12.3543	0.55165|0.55165	0.0:0.9227:0.0:0.0772|0.0:0.9227:0.0:0.0772	.|.	.|881;881	.|Q9NSI6-2;Q9NSI6	.|.;BRWD1_HUMAN	N|T	548|881	.|ENSP00000330753:R881T;ENSP00000344333:R881T;ENSP00000370178:R881T	.|ENSP00000330753:R881T	K|R	-|-	3|2	2|0	BRWD1|BRWD1	39530515|39530515	0.175000|0.175000	0.23083|0.23083	0.141000|0.141000	0.22245|0.22245	0.433000|0.433000	0.31745|0.31745	3.616000|3.616000	0.54174|0.54174	2.498000|2.498000	0.84270|0.84270	0.650000|0.650000	0.86243|0.86243	AAG|AGA	BRWD1	-	NULL		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40608645	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.015	G
BRWD3	254065	genome.wustl.edu	37	X	79965077	79965077	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:79965077C>T	ENST00000373275.4	-	21	2542		c.e21-1		BRWD3_ENST00000473691.1_Splice_Site	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATAATCATTCTGTAAAAGAG	0.408																																																	0													81.0	61.0	68.0					X																	79965077		2203	4300	6503	SO:0001630	splice_region_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2326-1G>A	X.37:g.79965077C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	-	e21-1	ENST00000373275.4	37	c.2326-1	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486132	0.63962	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3472	0.90326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79851733	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	5.311000	0.65786	2.273000	0.75805	0.600000	0.82982	.	BRWD3	-	-		0.408	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252	Intron	79965077	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	splice_site	SNP	1.000	T
BSN	8927	genome.wustl.edu	37	3	49689000	49689000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49689000C>T	ENST00000296452.4	+	5	2125	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	671					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCTTACTCTCAGGATGCGTC	0.577																																																	0													83.0	78.0	79.0					3																	49689000		2203	4300	6503	SO:0001587	stop_gained	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2011C>T	3.37:g.49689000C>T	ENSP00000296452:p.Gln671*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Nonsense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q671*	ENST00000296452.4	37	c.2011	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	c	27.3	4.820084	0.90873	.	.	ENSG00000164061	ENST00000296452	.	.	.	5.16	5.16	0.70880	.	0.279735	0.35407	N	0.003224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.0145	0.58749	0.0:0.922:0.0:0.0779	.	.	.	.	X	671	.	ENSP00000296452:Q671X	Q	+	1	0	BSN	49664004	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.594000	0.54008	2.395000	0.81488	0.556000	0.70494	CAG	BSN	-	NULL		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49689000	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BTK	695	genome.wustl.edu	37	X	100613379	100613379	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:100613379G>C	ENST00000308731.7	-	12	1184	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E	BTK_ENST00000372880.1_Missense_Mutation_p.Q341E	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	341	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACTGGCTCTGAGGTGTGGAA	0.498									Agammaglobulinemia, X-linked																																								0													194.0	160.0	172.0					X																	100613379		2203	4300	6503	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1021C>G	X.37:g.100613379G>C	ENSP00000308176:p.Gln341Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAW1|Q32ML5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.Q341E	ENST00000308731.7	37	c.1021	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282472	0.23392	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D;D	0.91894	-2.93;-2.93	6.06	6.06	0.98353	SH2 motif (4);	0.111349	0.64402	D	0.000005	T	0.79399	0.4439	N	0.03016	-0.435	0.50171	D	0.999852	B;B;B;P	0.34462	0.001;0.071;0.005;0.454	B;B;B;B	0.34931	0.001;0.089;0.017;0.192	T	0.80439	-0.1382	10	0.02654	T	1	.	14.6529	0.68811	0.0:0.1412:0.8588:0.0	.	12;341;341;341	Q3MS94;Q5JY90;B2RAW1;Q06187	.;.;.;BTK_HUMAN	E	341;12;12;10;12;12;12;341;11	ENSP00000361971:Q341E;ENSP00000308176:Q341E	ENSP00000308176:Q341E	Q	-	1	0	BTK	100500035	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.466000	0.66731	2.562000	0.86427	0.600000	0.82982	CAG	BTK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	G	NM_000061		100613379	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	missense	SNP	1.000	C
C10orf11	83938	genome.wustl.edu	37	10	77795880	77795880	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:77795880C>T	ENST00000372499.1	+	2	377	c.162C>T	c.(160-162)ctC>ctT	p.L54L	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	54					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CCTTAACCCTCAACAAGAACC	0.567											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													163.0	138.0	146.0					10																	77795880		2203	4300	6503	SO:0001819	synonymous_variant	83938			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.162C>T	10.37:g.77795880C>T		Somatic	1178	WXS	Illumina HiSeq	Phase_IV	B1AVW6	Silent	SNP	NULL	p.L54	ENST00000372499.1	37	c.162	CCDS7351.1	10																																																																																			C10orf11	-	NULL		0.567	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf11	HGNC	protein_coding	OTTHUMT00000048839.1	C	NM_032024		77795880	+1	no_errors	ENST00000372499	ensembl	human	known	70_37	silent	SNP	1.000	T
C12orf43	64897	genome.wustl.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:121454196C>T	ENST00000288757.3	-	1	104	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K|C12orf43_ENST00000537817.1_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											43.0	43.0	43.0					12																	121454196		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.82G>A	12.37:g.121454196C>T	ENSP00000288757:p.Glu28Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.E28K	ENST00000288757.3	37	c.82	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.698201|2.698201	0.48307|0.48307	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.59364|.	0.35;0.27|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.046078|.	0.85682|.	D|.	0.000000|.	T|T	0.65770|0.65770	0.2723|0.2723	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;P;B|.	0.54964|.	0.969;0.895;0.427|.	P;P;B|.	0.47891|.	0.56;0.56;0.061|.	T|T	0.66176|0.66176	-0.5989|-0.5989	10|6	0.56958|0.56958	D|D	0.05|0.05	-38.6147|-38.6147	14.1151|14.1151	0.65149|0.65149	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	K|Q	28|32	ENSP00000288757:E28K;ENSP00000437803:E28K|.	ENSP00000288757:E28K|ENSP00000437546:R32Q	E|R	-|-	1|2	0|0	C12orf43|C12orf43	119938579|119938579	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.058000|0.058000	0.15608|0.15608	3.546000|3.546000	0.53656|0.53656	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAG|CGA	C12orf43	-	NULL		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		C	NM_022895		121454196	-1	no_errors	ENST00000288757	ensembl	human	known	70_37	missense	SNP	0.999	T
C16orf82	162083	genome.wustl.edu	37	16	27079143	27079143	+	lincRNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27079143G>A	ENST00000505035.1	+	0	1116				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		GCTGCACCCAGAGTGGATATT	0.502																																																	0																																												162083			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27079143G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGC2|Q8NEF0	RNA	SNP	-	NULL	ENST00000505035.1	37	NULL		16																																																																																			C16orf82	-	-		0.502	C16orf82-001	KNOWN	basic	lincRNA	C16orf82	HGNC	lincRNA	OTTHUMT00000366634.1	G	NM_001145545		27079143	+1	no_errors	ENST00000418886	ensembl	human	known	70_37	rna	SNP	0.001	A
C16orf91	283951	genome.wustl.edu	37	16	1470551	1470551	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1470551G>A	ENST00000442039.2	-	2	171	c.95C>T	c.(94-96)tCc>tTc	p.S32F	C16orf91_ENST00000310355.1_Missense_Mutation_p.S189F|C16orf91_ENST00000563974.1_5'UTR	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	32						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGATCCCGGGAACCGGGCAA	0.682																																																	0													27.0	31.0	30.0					16																	1470551		2199	4299	6498	SO:0001583	missense	283951			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.95C>T	16.37:g.1470551G>A	ENSP00000413100:p.Ser32Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.S189F	ENST00000442039.2	37	c.566		16	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606196	0.28623	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	4.29	-1.07	0.09968	.	1.363970	0.05185	N	0.502011	T	0.19046	0.0457	.	.	.	0.09310	N	1	P	0.43094	0.799	B	0.34931	0.192	T	0.23797	-1.0178	8	0.56958	D	0.05	-2.7775	3.8795	0.09072	0.134:0.4448:0.3195:0.1018	.	32	Q4G0I0	CSMT1_HUMAN	F	32;189	.	ENSP00000311390:S189F	S	-	2	0	C16orf91	1410552	0.276000	0.24211	0.063000	0.19743	0.008000	0.06430	-0.066000	0.11598	-0.034000	0.13713	-0.311000	0.09066	TCC	C16orf91	-	NULL		0.682	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	G	NM_001010878		1470551	-1	no_errors	ENST00000310355	ensembl	human	known	70_37	missense	SNP	0.014	A
C16orf82	162083	genome.wustl.edu	37	16	27079378	27079378	+	lincRNA	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27079378G>C	ENST00000505035.1	+	0	1351				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CACCAATGCTGAGTCCACCTG	0.448																																																	0																																												162083			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27079378G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGC2|Q8NEF0	RNA	SNP	-	NULL	ENST00000505035.1	37	NULL		16																																																																																			C16orf82	-	-		0.448	C16orf82-001	KNOWN	basic	lincRNA	C16orf82	HGNC	lincRNA	OTTHUMT00000366634.1	G	NM_001145545		27079378	+1	no_errors	ENST00000418886	ensembl	human	known	70_37	rna	SNP	0.000	C
C17orf62	79415	genome.wustl.edu	37	17	80401492	80401492	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:80401492G>A	ENST00000437807.2	-	0	1269				C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_3'UTR|C17orf62_ENST00000336995.7_Silent_p.L169L	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGGCTGGCGAGACCTCCGG	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*388C>T	17.37:g.80401492G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1B6X3|Q96NR1	Silent	SNP	NULL	p.L169	ENST00000437807.2	37	c.507	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231509	0.09969	.	.	ENSG00000178927	ENST00000536759	.	.	.	2.93	-5.85	0.02311	.	.	.	.	.	T	0.20007	0.0481	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29458	-1.0011	4	.	.	.	.	4.7988	0.13287	0.2864:0.3421:0.3714:0.0	.	.	.	.	L	174	.	.	S	-	2	0	C17orf62	77994781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.755000	0.04782	-1.131000	0.02910	-1.036000	0.02392	TCG	C17orf62	-	NULL		0.637	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	G	NM_001033046		80401492	-1	no_errors	ENST00000336995	ensembl	human	known	70_37	silent	SNP	0.000	A
C17orf62	79415	genome.wustl.edu	37	17	80401499	80401499	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:80401499C>T	ENST00000437807.2	-	0	1262				C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_3'UTR|C17orf62_ENST00000336995.7_Missense_Mutation_p.G167E	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCGAGACCTCCGGCTGCAGA	0.642																																																	0																																										SO:0001624	3_prime_UTR_variant	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*381G>A	17.37:g.80401499C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.G167E	ENST00000437807.2	37	c.500	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075765	0.20227	.	.	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	2.24	1.23	0.21249	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.33121	0.158	T	0.42015	-0.9476	7	0.87932	D	0	.	5.2066	0.15295	0.0:0.8265:0.0:0.1735	.	205	Q8NEZ9	.	E	205;172;167	.	ENSP00000337560:G167E	G	-	2	0	C17orf62	77994788	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.371000	0.20450	0.491000	0.27793	0.561000	0.74099	GGA	C17orf62	-	NULL		0.642	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	C	NM_001033046		80401499	-1	no_errors	ENST00000336995	ensembl	human	known	70_37	missense	SNP	0.000	T
C19orf35	374872	genome.wustl.edu	37	19	2280831	2280831	+	Intron	SNP	C	C	T	rs371625189		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:2280831C>T	ENST00000342063.3	-	2	176					NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35											large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAGGGCTCCCTGGGGAGC	0.716																																																	0													15.0	16.0	16.0					19																	2280831		2198	4294	6492	SO:0001627	intron_variant	374872			AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.82+17G>A	19.37:g.2280831C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E34K	ENST00000342063.3	37	c.100	CCDS12087.1	19																																																																																			C19orf35	-	NULL		0.716	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf35	HGNC	protein_coding	OTTHUMT00000442080.1	C	NM_198532		2280831	-1	no_errors	ENST00000590316	ensembl	human	known	70_37	missense	SNP	0.005	T
C1orf109	54955	genome.wustl.edu	37	1	38148726	38148726	+	3'UTR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:38148726G>C	ENST00000358011.4	-	0	870				C1orf109_ENST00000609516.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109											lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CGTTTCTTTAGAAACATCAGG	0.433																																																	0													70.0	62.0	64.0					1																	38148726		692	1591	2283	SO:0001624	3_prime_UTR_variant	54955			AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.*69C>G	1.37:g.38148726G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPT1|Q8WVD1	RNA	SNP	-	NULL	ENST00000358011.4	37	NULL	CCDS423.1	1																																																																																			C1orf109	-	-		0.433	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf109	HGNC	protein_coding	OTTHUMT00000012486.1	G	NM_017850		38148726	-1	no_errors	ENST00000464178	ensembl	human	known	70_37	rna	SNP	0.000	C
C1orf112	55732	genome.wustl.edu	37	1	169770059	169770059	+	Missense_Mutation	SNP	C	C	T	rs150100828		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:169770059C>T	ENST00000286031.6	+	3	713	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000456684.1_Missense_Mutation_p.H63Y|C1orf112_ENST00000359326.4_Missense_Mutation_p.H5Y	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	5										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTTTACCTCATATGAACCA	0.308																																																	0								C	TYR/HIS	0,4388		0,0,2194	37.0	39.0	38.0		13	5.2	1.0	1	dbSNP_134	38	3,8543	2.2+/-6.3	0,3,4270	yes	missense	C1orf112	NM_018186.2	83	0,3,6464	TT,TC,CC		0.0351,0.0,0.0232	probably-damaging	5/854	169770059	3,12931	2194	4273	6467	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.13C>T	1.37:g.169770059C>T	ENSP00000286031:p.His5Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.H5Y	ENST00000286031.6	37	c.13	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408489	0.83340	0.0	3.51E-4	ENSG00000000460	ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.66280	0.54;-0.2;0.54	5.15	5.15	0.70609	.	0.098018	0.64402	D	0.000001	T	0.74749	0.3757	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.71870	0.975;0.909	T	0.78513	-0.2175	10	0.87932	D	0	-7.2848	17.2224	0.86961	0.0:1.0:0.0:0.0	.	5;63	Q9NSG2;B4DRP7	CA112_HUMAN;.	Y	5;63;5	ENSP00000352276:H5Y;ENSP00000415583:H63Y;ENSP00000286031:H5Y	ENSP00000286031:H5Y	H	+	1	0	C1orf112	168036683	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.679000	0.74513	2.410000	0.81850	0.467000	0.42956	CAT	C1orf112	-	NULL		0.308	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169770059	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	1.000	T
C1orf116	79098	genome.wustl.edu	37	1	207195713	207195713	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:207195713G>A	ENST00000359470.5	-	4	1645	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	C1orf116_ENST00000461135.2_Missense_Mutation_p.L220F	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	466						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CTCTCCTGGAGAGTCAGCCCT	0.542																																																	0													39.0	41.0	41.0					1																	207195713		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1396C>T	1.37:g.207195713G>A	ENSP00000352447:p.Leu466Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.L466F	ENST00000359470.5	37	c.1396	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616331	0.66672	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.29917	2.52;1.55	5.7	4.79	0.61399	.	0.159402	0.43416	D	0.000562	T	0.34629	0.0904	M	0.63843	1.955	0.26533	N	0.97422	P	0.38078	0.617	B	0.38712	0.28	T	0.32587	-0.9901	10	0.66056	D	0.02	-21.006	13.7636	0.62981	0.0735:0.0:0.9265:0.0	.	466	Q9BW04	SARG_HUMAN	F	466;220	ENSP00000352447:L466F;ENSP00000436862:L220F	ENSP00000352447:L466F	L	-	1	0	C1orf116	205262336	0.997000	0.39634	0.497000	0.27552	0.770000	0.43624	2.970000	0.49240	1.416000	0.47057	0.655000	0.94253	CTC	C1orf116	-	NULL		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	G	NM_024115		207195713	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.280	A
PLEKHN1	84069	genome.wustl.edu	37	1	911633	911633	+	IGR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:911633G>A	ENST00000379409.2	+	0	2455				C1orf170_ENST00000433179.2_Silent_p.V670V|C1orf170_ENST00000341290.2_Silent_p.V650V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1											central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGATGGTGCCGACGTTGGCCA	0.701																																																	0																																										SO:0001628	intergenic_variant	84808			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756		1.37:g.911633G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q494U2|Q5SV98|Q9H0M7	Silent	SNP	NULL	p.V670	ENST00000379409.2	37	c.2010		1																																																																																			C1orf170	-	NULL		0.701	PLEKHN1-005	KNOWN	basic	protein_coding	C1orf170	HGNC	protein_coding	OTTHUMT00000473256.1	G	NM_032129		911633	-1	no_errors	ENST00000433179	ensembl	human	known	70_37	silent	SNP	0.827	A
PLEKHN1	84069	genome.wustl.edu	37	1	911980	911980	+	IGR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:911980G>A	ENST00000379409.2	+	0	2455				C1orf170_ENST00000433179.2_Missense_Mutation_p.S631L|C1orf170_ENST00000341290.2_Missense_Mutation_p.S611L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1											central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAAGGCAAATGATGGGACAGG	0.622																																																	0																																										SO:0001628	intergenic_variant	84808			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756		1.37:g.911980G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	NULL	p.S631L	ENST00000379409.2	37	c.1892		1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.148089	0.37923	.	.	ENSG00000187642	ENST00000433179;ENST00000341290	T	0.52295	0.67	5.24	3.14	0.36123	.	0.696627	0.12601	N	0.454671	T	0.35566	0.0936	.	.	.	0.09310	N	1	B	0.31459	0.324	B	0.30179	0.112	T	0.31806	-0.9930	9	0.87932	D	0	-2.8241	6.4988	0.22158	0.1096:0.1833:0.7071:0.0	.	631	Q5SV97	CA170_HUMAN	L	631;611	ENSP00000414022:S631L	ENSP00000343864:S611L	S	-	2	0	C1orf170	901843	0.022000	0.18835	0.018000	0.16275	0.113000	0.19764	1.625000	0.37029	1.152000	0.42452	0.298000	0.19748	TCA	C1orf170	-	NULL		0.622	PLEKHN1-005	KNOWN	basic	protein_coding	C1orf170	HGNC	protein_coding	OTTHUMT00000473256.1	G	NM_032129		911980	-1	no_errors	ENST00000433179	ensembl	human	known	70_37	missense	SNP	0.026	A
C1orf123	54987	genome.wustl.edu	37	1	53685871	53685871	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:53685871G>A	ENST00000294360.4	-	2	132				C1orf123_ENST00000470385.1_Intron|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CGGAGAGAAGGCTCCGGTTCA	0.547																																																	0																																										SO:0001627	intron_variant	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.90+61C>T	1.37:g.53685871G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000294360.4	37	NULL	CCDS576.1	1																																																																																			C1orf123	-	-		0.547	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	G	NM_017887		53685871	-1	no_errors	ENST00000474227	ensembl	human	known	70_37	rna	SNP	0.000	A
C1orf116	79098	genome.wustl.edu	37	1	207196772	207196772	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:207196772C>A	ENST00000359470.5	-	4	586	c.337G>T	c.(337-339)Gag>Tag	p.E113*	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGCTGGACTCAGTTACTGTC	0.542																																																	0													42.0	43.0	43.0					1																	207196772		2203	4297	6500	SO:0001587	stop_gained	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.337G>T	1.37:g.207196772C>A	ENSP00000352447:p.Glu113*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JV41|Q658X3	Nonsense_Mutation	SNP	NULL	p.E113*	ENST00000359470.5	37	c.337	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837397	0.71373	.	.	ENSG00000182795	ENST00000359470	.	.	.	4.49	-0.974	0.10293	.	1.976400	0.01851	N	0.035933	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	1.9499	4.4701	0.11708	0.0898:0.4478:0.315:0.1473	.	.	.	.	X	113	.	ENSP00000352447:E113X	E	-	1	0	C1orf116	205263395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.051000	0.14141	-0.264000	0.09365	-0.823000	0.03104	GAG	C1orf116	-	NULL		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207196772	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	nonsense	SNP	0.000	A
C2orf43	60526	genome.wustl.edu	37	2	21001202	21001202	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:21001202C>T	ENST00000237822.3	-	2	101	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000419825.2_Missense_Mutation_p.E8K|C2orf43_ENST00000435420.2_Missense_Mutation_p.E8K|C2orf43_ENST00000440866.2_Missense_Mutation_p.E8K|C2orf43_ENST00000381090.3_Missense_Mutation_p.E8K|C2orf43_ENST00000541941.1_Intron	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	8										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGAATTTCTTCCTTGAGT	0.393																																																	0													78.0	79.0	79.0					2																	21001202		2203	4300	6503	SO:0001583	missense	60526			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.22G>A	2.37:g.21001202C>T	ENSP00000237822:p.Glu8Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	pfam_DUF2305	p.E8K	ENST00000237822.3	37	c.22	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919623	0.33908	.	.	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000435420;ENST00000440866;ENST00000412261;ENST00000402479;ENST00000419825	.	.	.	5.94	5.06	0.68205	.	0.924076	0.09367	N	0.811876	T	0.34861	0.0912	L	0.47716	1.5	0.21984	N	0.999431	B;B;B;P;B;P	0.39282	0.294;0.346;0.335;0.666;0.346;0.602	B;B;B;B;B;B	0.33339	0.057;0.084;0.058;0.162;0.057;0.138	T	0.12319	-1.0552	9	0.08599	T	0.76	-5.5952	14.7402	0.69448	0.0:0.6109:0.3891:0.0	.	8;8;8;8;8;8	B4DS38;B4DRG3;B7ZAJ5;B4DWE2;Q9H6V9;B5MDU6	.;.;.;.;CB043_HUMAN;.	K	8	.	ENSP00000237822:E8K	E	-	1	0	C2orf43	20864683	0.996000	0.38824	0.896000	0.35187	0.322000	0.28314	2.382000	0.44345	1.502000	0.48669	0.561000	0.74099	GAA	C2orf43	-	NULL		0.393	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	C	NM_021925		21001202	-1	no_errors	ENST00000237822	ensembl	human	known	70_37	missense	SNP	0.889	T
HMCES	56941	genome.wustl.edu	37	3	129007710	129007710	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129007710C>T	ENST00000383463.4	+	3	286	c.197C>T	c.(196-198)tCt>tTt	p.S66F	HMCES_ENST00000389735.3_Missense_Mutation_p.S66F|HMCES_ENST00000417226.2_Missense_Mutation_p.S66F|HMCES_ENST00000502878.2_Missense_Mutation_p.S66F	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	66							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										GCAGACTCATCTGAGCGTATC	0.413																																																	0													114.0	101.0	106.0					3																	129007710		2203	4300	6503	SO:0001583	missense	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.197C>T	3.37:g.129007710C>T	ENSP00000372955:p.Ser66Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159	p.S66F	ENST00000383463.4	37	c.197	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664139	0.67700	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	4.21	0.49690	.	0.114969	0.64402	D	0.000009	T	0.79125	0.4393	M	0.82923	2.615	0.44201	D	0.997029	D;D	0.89917	0.999;1.0	D;D	0.76071	0.949;0.987	T	0.81994	-0.0677	9	0.62326	D	0.03	-20.5612	13.4892	0.61384	0.0:0.8431:0.1569:0.0	.	66;66	E7EMP6;Q96FZ2	.;CC037_HUMAN	F	66	.	ENSP00000372955:S66F	S	+	2	0	C3orf37	130490400	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.988000	0.49386	2.392000	0.81423	0.591000	0.81541	TCT	C3orf37	-	pfam_DUF159		0.413	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf37	HGNC	protein_coding	OTTHUMT00000355470.2	C	NM_020187		129007710	+1	no_errors	ENST00000383463	ensembl	human	known	70_37	missense	SNP	1.000	T
HMCES	56941	genome.wustl.edu	37	3	129007720	129007720	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129007720C>T	ENST00000383463.4	+	3	296	c.207C>T	c.(205-207)atC>atT	p.I69I	HMCES_ENST00000389735.3_Silent_p.I69I|HMCES_ENST00000417226.2_Silent_p.I69I|HMCES_ENST00000502878.2_Silent_p.I69I	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	69							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTGAGCGTATCATTGCTCCCA	0.418																																																	0													118.0	103.0	108.0					3																	129007720		2203	4300	6503	SO:0001819	synonymous_variant	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.207C>T	3.37:g.129007720C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJR9|Q96G34|Q9NRP3	Silent	SNP	pfam_DUF159	p.I69	ENST00000383463.4	37	c.207	CCDS33852.1	3																																																																																			C3orf37	-	pfam_DUF159		0.418	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf37	HGNC	protein_coding	OTTHUMT00000355470.2	C	NM_020187		129007720	+1	no_errors	ENST00000383463	ensembl	human	known	70_37	silent	SNP	0.705	T
C6	729	genome.wustl.edu	37	5	41201697	41201697	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:41201697C>T	ENST00000263413.3	-	3	527	c.263G>A	c.(262-264)gGa>gAa	p.G88E	C6_ENST00000337836.5_Missense_Mutation_p.G88E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	88	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGACCATGGTCCAAAATCTCC	0.453																																																	0													95.0	91.0	92.0					5																	41201697		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.263G>A	5.37:g.41201697C>T	ENSP00000263413:p.Gly88Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G88E	ENST00000263413.3	37	c.263	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370805	0.82573	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.21191	2.02;2.02;2.02	5.92	5.05	0.67936	.	0.201994	0.52532	D	0.000074	T	0.40448	0.1117	M	0.79926	2.475	0.47905	D	0.99954	P	0.41673	0.759	P	0.50659	0.647	T	0.19877	-1.0292	10	0.54805	T	0.06	-19.3551	14.371	0.66840	0.0:0.9267:0.0:0.0733	.	88	P13671	CO6_HUMAN	E	88	ENSP00000338861:G88E;ENSP00000263413:G88E;ENSP00000396565:G88E	ENSP00000263413:G88E	G	-	2	0	C6	41237454	0.999000	0.42202	0.987000	0.45799	0.843000	0.47879	4.488000	0.60300	2.809000	0.96659	0.655000	0.94253	GGA	C6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41201697	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	1.000	T
C9orf89	84270	genome.wustl.edu	37	9	95870053	95870053	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:95870053G>C	ENST00000375464.2	+	2	233	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	35	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TCCTCCAGCTGAACCGTTACT	0.562																																																	0													100.0	76.0	84.0					9																	95870053		2203	4300	6503	SO:0001819	synonymous_variant	84270			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.105G>C	9.37:g.95870053G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BJH8|Q9BSY2	Silent	SNP	superfamily_DEATH-like	p.L35	ENST00000375464.2	37	c.105	CCDS6702.2	9																																																																																			C9orf89	-	NULL		0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	HGNC	protein_coding	OTTHUMT00000053128.1	G	NM_032310		95870053	+1	no_errors	ENST00000466409	ensembl	human	known	70_37	silent	SNP	0.999	C
CACHD1	57685	genome.wustl.edu	37	1	65142651	65142651	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:65142651C>T	ENST00000371073.2	+	22	3049	c.3049C>T	c.(3049-3051)Cac>Tac	p.H1017Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.H966Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1017					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGATGCTCTTCACCAGTGTGT	0.488																																																	0													102.0	92.0	95.0					1																	65142651		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3049C>T	1.37:g.65142651C>T	ENSP00000360113:p.His1017Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.H1017Y	ENST00000371073.2	37	c.3049		1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235029	0.58886	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22134	1.97;1.97	5.78	5.78	0.91487	.	0.293369	0.43747	D	0.000526	T	0.04861	0.0131	N	0.08118	0	0.29867	N	0.827123	B	0.06786	0.001	B	0.09377	0.004	T	0.21245	-1.0251	10	0.39692	T	0.17	-12.5337	13.2416	0.59999	0.0:0.9279:0.0:0.0721	.	1017	Q5VU97	CAHD1_HUMAN	Y	1017;966	ENSP00000360113:H1017Y;ENSP00000290039:H966Y	ENSP00000290039:H966Y	H	+	1	0	CACHD1	64915239	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	5.748000	0.68697	2.730000	0.93505	0.655000	0.94253	CAC	CACHD1	-	NULL		0.488	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		C	NM_020925		65142651	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	0.996	T
CAMK2D	817	genome.wustl.edu	37	4	114468803	114468803	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:114468803C>T	ENST00000342666.5	-	6	414				CAMK2D_ENST00000394522.3_Intron|CAMK2D_ENST00000505990.1_Silent_p.L137L|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000418639.2_Intron|CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000429180.1_Intron|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000379773.2_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000511664.1_Silent_p.L137L|CAMK2D_ENST00000454265.2_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TACTCACCTTCAGGTCCCGAT	0.483											OREG0016299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	15.0	16.0					4																	114468803		876	1990	2866	SO:0001627	intron_variant	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.414+1009G>A	4.37:g.114468803C>T		Somatic	1458	WXS	Illumina HiSeq	Phase_IV	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L137	ENST00000342666.5	37	c.411	CCDS3703.1	4																																																																																			CAMK2D	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.483	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	C			114468803	-1	no_errors	ENST00000511664	ensembl	human	novel	70_37	silent	SNP	1.000	T
CAMK2G	818	genome.wustl.edu	37	10	75576468	75576468	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:75576468C>T	ENST00000351293.3	-	17	1313				CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000322680.3_Intron|CAMK2G_ENST00000472912.1_Intron|CAMK2G_ENST00000305762.7_Intron|CAMK2G_ENST00000423381.1_Intron|CAMK2G_ENST00000372765.1_Intron|RP11-574K11.5_ENST00000434147.1_RNA|CAMK2G_ENST00000394762.2_Intron	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	ccgccagcctcagcctcccaa	0.542																																																	0																																										SO:0001627	intron_variant	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.1255+312G>A	10.37:g.75576468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	RNA	SNP	-	NULL	ENST00000351293.3	37	NULL	CCDS7336.1	10																																																																																			CAMK2G	-	-		0.542	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2G	HGNC	protein_coding	OTTHUMT00000048715.1	C	NM_172169		75576468	-1	no_errors	ENST00000487167	ensembl	human	known	70_37	rna	SNP	0.155	T
CAMKMT	79823	genome.wustl.edu	37	2	44981214	44981214	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:44981214G>A	ENST00000378494.3	+	9	763	c.719G>A	c.(718-720)aGa>aAa	p.R240K		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	240						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GACCAGTACAGAGCCAGCCTT	0.413																																																	0													276.0	278.0	277.0					2																	44981214		2203	4300	6503	SO:0001583	missense	79823				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.719G>A	2.37:g.44981214G>A	ENSP00000367755:p.Arg240Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.R240K	ENST00000378494.3	37	c.719	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597611	0.87055	.	.	ENSG00000143919	ENST00000378494	T	0.06294	3.32	5.79	5.79	0.91817	.	0.085529	0.85682	D	0.000000	T	0.26557	0.0649	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00329	-1.1813	10	0.28530	T	0.3	-11.8208	20.04	0.97581	0.0:0.0:1.0:0.0	.	240	Q7Z624	CMKMT_HUMAN	K	240	ENSP00000367755:R240K	ENSP00000367755:R240K	R	+	2	0	CAMKMT	44834718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	AGA	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like		0.413	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	G	NM_024766		44981214	+1	no_errors	ENST00000378494	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN9	10753	genome.wustl.edu	37	1	230903363	230903363	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:230903363G>A	ENST00000271971.2	+	5	726	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CAPN9_ENST00000366666.2_Missense_Mutation_p.E142K|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.E205K	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	205	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGTGTGGCAGAGACCTTCCA	0.532																																																	0													94.0	99.0	97.0					1																	230903363		2203	4300	6503	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.613G>A	1.37:g.230903363G>A	ENSP00000271971:p.Glu205Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E205K	ENST00000271971.2	37	c.613	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.128333	0.94473	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.89617	-2.54;-2.54;-2.54	5.32	5.32	0.75619	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96850	0.9624	10	0.87932	D	0	.	19.0007	0.92832	0.0:0.0:1.0:0.0	.	142;205;205	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	K	205;205;142	ENSP00000271971:E205K;ENSP00000346538:E205K;ENSP00000355626:E142K	ENSP00000271971:E205K	E	+	1	0	CAPN9	228969986	1.000000	0.71417	0.996000	0.52242	0.651000	0.38670	9.550000	0.98110	2.474000	0.83562	0.655000	0.94253	GAG	CAPN9	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.532	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	G	NM_006615		230903363	+1	no_errors	ENST00000271971	ensembl	human	known	70_37	missense	SNP	1.000	A
CARD10	29775	genome.wustl.edu	37	22	37891921	37891921	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:37891921C>T	ENST00000403299.1	-	15	2365	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	CARD10_ENST00000251973.5_Missense_Mutation_p.E717K|CARD10_ENST00000406271.3_Missense_Mutation_p.E431K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	717					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TCTGCCCTCTCAGGCAAGGTG	0.607																																																	0													75.0	64.0	68.0					22																	37891921		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2149G>A	22.37:g.37891921C>T	ENSP00000384570:p.Glu717Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.E717K	ENST00000403299.1	37	c.2149	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423716	0.62733	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.42900	0.96;2.63;0.96;1.41	4.98	4.98	0.66077	.	0.135447	0.52532	D	0.000073	T	0.31451	0.0797	L	0.33485	1.01	0.32720	N	0.510488	P;B	0.35745	0.518;0.2	B;B	0.26770	0.072;0.073	T	0.48885	-0.8995	10	0.48119	T	0.1	-31.7725	16.4258	0.83814	0.0:1.0:0.0:0.0	.	717;431	Q9BWT7;Q8NC81	CAR10_HUMAN;.	K	717;431;717;358;189	ENSP00000384570:E717K;ENSP00000385799:E431K;ENSP00000251973:E717K;ENSP00000416239:E358K	ENSP00000251973:E717K	E	-	1	0	CARD10	36221867	0.997000	0.39634	0.957000	0.39632	0.920000	0.55202	3.828000	0.55753	2.289000	0.77006	0.561000	0.74099	GAG	CARD10	-	NULL		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	C	NM_014550		37891921	-1	no_errors	ENST00000251973	ensembl	human	known	70_37	missense	SNP	0.992	T
CARD6	84674	genome.wustl.edu	37	5	40853884	40853884	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:40853884G>A	ENST00000254691.5	+	3	2649	c.2450G>A	c.(2449-2451)aGa>aAa	p.R817K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	817					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACATTTGGGAGACTGCCAAGA	0.463																																																	0													247.0	259.0	255.0					5																	40853884		2203	4300	6503	SO:0001583	missense	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2450G>A	5.37:g.40853884G>A	ENSP00000254691:p.Arg817Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.R817K	ENST00000254691.5	37	c.2450	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510697	0.44660	.	.	ENSG00000132357	ENST00000254691	T	0.20200	2.09	5.03	3.22	0.36961	.	0.614342	0.15595	N	0.254188	T	0.15003	0.0362	L	0.32530	0.975	0.21220	N	0.999754	B	0.25235	0.121	B	0.17098	0.017	T	0.17077	-1.0381	10	0.42905	T	0.14	-3.1588	8.3091	0.32060	0.0868:0.1584:0.7548:0.0	.	817	Q9BX69	CARD6_HUMAN	K	817	ENSP00000254691:R817K	ENSP00000254691:R817K	R	+	2	0	CARD6	40889641	0.389000	0.25205	0.418000	0.26571	0.028000	0.11728	1.183000	0.32041	0.696000	0.31696	-0.502000	0.04539	AGA	CARD6	-	NULL		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	G			40853884	+1	no_errors	ENST00000254691	ensembl	human	known	70_37	missense	SNP	0.053	A
CASP16	197350	genome.wustl.edu	37	16	3197904	3197904	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:3197904C>T	ENST00000428155.1	+	7	969	c.243C>T	c.(241-243)atC>atT	p.I81I				P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)	81					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										TCCTGCAGATCTACGCTGAGG	0.637																																																	0																																										SO:0001819	synonymous_variant	197350					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.243C>T	16.37:g.3197904C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.I81	ENST00000428155.1	37	c.243		16																																																																																			CASP16	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core		0.637	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	C	XM_003403459		3197904	+1	no_errors	ENST00000428155	ensembl	human	known	70_37	silent	SNP	0.967	T
CASP8	841	genome.wustl.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:202150039C>T	ENST00000432109.2	+	9	1492	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CASP8_ENST00000264274.9_Splice_Site_p.R351*|CASP8_ENST00000323492.7_Splice_Site_p.R420*|CASP8_ENST00000358485.4_Splice_Site_p.R494*|CASP8_ENST00000264275.5_Splice_Site_p.R452*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												3	Substitution - Nonsense(3)	endometrium(3)											86.0	77.0	80.0					2																	202150039		2203	4300	6503	SO:0001630	splice_region_variant	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1304+1C>T	2.37:g.202150039C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R494*	ENST00000432109.2	37	c.1480	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.402692	0.96030	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	3.47	0.39725	.	0.583046	0.18288	N	0.145809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6272	0.28218	0.5048:0.4125:0.0:0.0826	.	.	.	.	X	420;351;435;452;494;420;214	.	ENSP00000264274:R351X	R	+	1	2	CASP8	201858284	0.102000	0.21896	0.991000	0.47740	0.792000	0.44763	0.396000	0.20867	0.538000	0.28769	0.561000	0.74099	CGA	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	C	NM_001228	Nonsense_Mutation	202150039	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.956	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44020967	44020967	+	IGR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:44020967C>G								STRC (10509 upstream) : RNU6-354P (5409 downstream)																							CACGGTCATCCTGATCCATTT	0.438																																																	0																																										SO:0001628	intergenic_variant	440278																															15.37:g.44020967C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		15																																																																																			CATSPER2P1	-	-	0	0.438					CATSPER2P1	HGNC			C			44020967	-1	no_errors	ENST00000446479	ensembl	human	putative	70_37	rna	SNP	0.999	G
CCDC120	90060	genome.wustl.edu	37	X	48923078	48923078	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:48923078G>A	ENST00000376396.3	+	8	995	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	CCDC120_ENST00000496529.2_Missense_Mutation_p.R259Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.R259Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.R294Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.R247Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.R259Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	259										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGCCCTGAGCGGCGAACCCCA	0.637																																																	0													21.0	19.0	19.0					X																	48923078		2202	4297	6499	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.776G>A	X.37:g.48923078G>A	ENSP00000365577:p.Arg259Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.R259Q	ENST00000376396.3	37	c.776	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237008	0.79800	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.15	4.29	0.51040	.	0.122796	0.56097	D	0.000032	T	0.48132	0.1483	L	0.34521	1.04	0.30760	N	0.744225	D;D;D;D	0.69078	0.994;0.997;0.997;0.997	D;D;D;D	0.66716	0.921;0.946;0.946;0.946	T	0.49513	-0.8932	9	0.34782	T	0.22	-7.1831	10.3479	0.43916	0.0963:0.0:0.9037:0.0	.	247;294;247;259	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	Q	259;259;247	.	ENSP00000365577:R259Q	R	+	2	0	CCDC120	48810022	0.996000	0.38824	0.979000	0.43373	0.984000	0.73092	2.464000	0.45067	1.088000	0.41272	0.529000	0.55759	CGG	CCDC120	-	NULL		0.637	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	G	NM_033626		48923078	+1	no_errors	ENST00000422185	ensembl	human	known	70_37	missense	SNP	0.991	A
CCDC122	160857	genome.wustl.edu	37	13	44443506	44443506	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:44443506C>T	ENST00000444614.3	-	3	265	c.7G>A	c.(7-9)Gac>Aac	p.D3N	CCDC122_ENST00000281508.3_Missense_Mutation_p.D3N|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	3										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCTTTGTTGTCTGACATTTTC	0.294																																																	0													172.0	145.0	154.0					13																	44443506		2203	4297	6500	SO:0001583	missense	160857			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.7G>A	13.37:g.44443506C>T	ENSP00000407763:p.Asp3Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.D3N	ENST00000444614.3	37	c.7	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	c	9.932	1.215101	0.22373	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.44881	0.91;1.91	5.21	3.36	0.38483	.	1.071940	0.07178	N	0.853530	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B;B	0.30406	0.278;0.02	B;B	0.28139	0.086;0.025	T	0.18745	-1.0327	10	0.20519	T	0.43	-30.9816	7.241	0.26096	0.0:0.7817:0.0:0.2183	.	3;3	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	N	3	ENSP00000407763:D3N;ENSP00000281508:D3N	ENSP00000281508:D3N	D	-	1	0	CCDC122	43341506	0.090000	0.21635	0.719000	0.30619	0.617000	0.37484	0.341000	0.19909	1.358000	0.45922	0.454000	0.30748	GAC	CCDC122	-	NULL		0.294	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	C	NM_144974		44443506	-1	no_errors	ENST00000281508	ensembl	human	known	70_37	missense	SNP	0.061	T
CCDC146	57639	genome.wustl.edu	37	7	76751981	76751981	+	5'UTR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:76751981G>C	ENST00000285871.4	+	0	48				RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCTTTGGAGTGAGACCCAGGA	0.498																																																	0																																										SO:0001623	5_prime_UTR_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.-80G>C	7.37:g.76751981G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X6|Q9P223	RNA	SNP	-	NULL	ENST00000285871.4	37	NULL	CCDS34671.1	7																																																																																			CCDC146	-	-		0.498	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	G	NM_020879		76751981	+1	no_errors	ENST00000495584	ensembl	human	putative	70_37	rna	SNP	0.774	C
CCDC28B	79140	genome.wustl.edu	37	1	32669565	32669565	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:32669565G>A	ENST00000373602.5	+	3	597	c.250G>A	c.(250-252)Gag>Aag	p.E84K	IQCC_ENST00000291358.6_5'Flank|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.E84K|CCDC28B_ENST00000483009.1_3'UTR|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	84					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTCCTGACCGAGGTGACTGA	0.627																																																	0													56.0	53.0	54.0					1																	32669565		2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.250G>A	1.37:g.32669565G>A	ENSP00000362704:p.Glu84Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K789|Q8TBV8	Missense_Mutation	SNP	NULL	p.E84K	ENST00000373602.5	37	c.250	CCDS354.2	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459955	0.84317	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.50548	0.79;0.74	5.33	5.33	0.75918	.	0.143294	0.64402	D	0.000007	T	0.38214	0.1032	L	0.29908	0.895	0.58432	D	0.999999	B;D	0.63046	0.029;0.992	B;B	0.38880	0.004;0.284	T	0.45145	-0.9281	10	0.72032	D	0.01	0.1043	18.9901	0.92788	0.0:0.0:1.0:0.0	.	84;84	Q9BUN5;E9PM81	CC28B_HUMAN;.	K	84	ENSP00000362704:E84K;ENSP00000413017:E84K	ENSP00000362704:E84K	E	+	1	0	CCDC28B	32442152	1.000000	0.71417	0.957000	0.39632	0.929000	0.56500	9.566000	0.98157	2.662000	0.90505	0.561000	0.74099	GAG	CCDC28B	-	NULL		0.627	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	G	NM_024296		32669565	+1	no_errors	ENST00000373602	ensembl	human	known	70_37	missense	SNP	1.000	A
CFAP45	25790	genome.wustl.edu	37	1	159846318	159846318	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:159846318G>A	ENST00000368099.4	-	10	1417				CCDC19_ENST00000476696.1_Intron|CCDC19_ENST00000426543.2_Intron	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACAAGGAAAGGAATCCAAGGT	0.527																																																	0													51.0	51.0	51.0					1																	159846318		2203	4300	6503	SO:0001627	intron_variant	25790																														ENST00000368099.4:c.1352+27C>T	1.37:g.159846318G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000368099.4	37	NULL	CCDS30914.1	1																																																																																			CCDC19	-	-		0.527	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	G			159846318	-1	no_errors	ENST00000475911	ensembl	human	known	70_37	rna	SNP	0.000	A
CCDC78	124093	genome.wustl.edu	37	16	775574	775574	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:775574G>A	ENST00000293889.6	-	4	379	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677																																																	0													37.0	37.0	37.0					16																	775574		2193	4297	6490	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.274C>T	16.37:g.775574G>A	ENSP00000293889:p.Arg92Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	NULL	p.R92W	ENST00000293889.6	37	c.274	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158207	0.09236	.	.	ENSG00000162004	ENST00000293889	T	0.48201	0.82	4.83	0.228	0.15364	.	0.789478	0.11175	N	0.591611	T	0.26846	0.0657	N	0.17082	0.46	0.19945	N	0.999947	B;B;B;B	0.17667	0.023;0.023;0.01;0.003	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	-28.1705	4.2574	0.10724	0.2978:0.0:0.5432:0.159	.	92;92;166;92	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	W	92	ENSP00000293889:R92W	ENSP00000293889:R92W	R	-	1	2	CCDC78	715575	0.000000	0.05858	0.947000	0.38551	0.003000	0.03518	-0.193000	0.09573	0.197000	0.20387	-1.407000	0.01130	CGG	CCDC78	-	NULL		0.677	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	G	NM_173476		775574	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	missense	SNP	0.421	A
CCR8	1237	genome.wustl.edu	37	3	39374122	39374122	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:39374122G>A	ENST00000326306.4	+	2	438	c.300G>A	c.(298-300)gtG>gtA	p.V100V	CCR8_ENST00000414803.1_Missense_Mutation_p.V43I|CCR8_ENST00000545843.1_Silent_p.V17V	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	100					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACCAGTGGGTGTTTGGGACTG	0.483																																																	0													257.0	231.0	240.0					3																	39374122		2203	4300	6503	SO:0001819	synonymous_variant	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.300G>A	3.37:g.39374122G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	NULL	p.V43I	ENST00000326306.4	37	c.127	CCDS2684.1	3	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365904	0.24684	.	.	ENSG00000179934	ENST00000414803	T	0.17370	2.28	4.82	0.819	0.18785	.	0.451624	0.21746	N	0.069759	T	0.15652	0.0377	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11991	-1.0565	7	0.40728	T	0.16	.	1.0947	0.01671	0.3682:0.1567:0.3306:0.1445	.	.	.	.	I	43	ENSP00000390104:V43I	ENSP00000390104:V43I	V	+	1	0	CCR8	39349126	0.979000	0.34478	1.000000	0.80357	0.978000	0.69477	0.293000	0.19029	0.259000	0.21709	0.563000	0.77884	GTT	CCR8	-	NULL		0.483	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR8	HGNC	protein_coding	OTTHUMT00000254058.2	G	NM_005201		39374122	+1	no_errors	ENST00000414803	ensembl	human	putative	70_37	missense	SNP	0.969	A
CD97	976	genome.wustl.edu	37	19	14513660	14513660	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:14513660G>A	ENST00000242786.5	+	12	1515	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	CD97_ENST00000357355.3_Missense_Mutation_p.D430N|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.D386N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	479					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCGGGAAGAGACCCTCCTGC	0.567																																																	0													114.0	101.0	105.0					19																	14513660		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1435G>A	19.37:g.14513660G>A	ENSP00000242786:p.Asp479Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.D479N	ENST00000242786.5	37	c.1435	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	4.784	0.145792	0.09134	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.71461	-0.57;-0.48;-0.1	3.64	-2.51	0.06365	.	.	.	.	.	T	0.41743	0.1172	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.18777	-1.0326	9	0.22109	T	0.4	.	4.0215	0.09668	0.4631:0.1859:0.351:0.0	.	386;430;479	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	N	479;430;386;429	ENSP00000242786:D479N;ENSP00000349918:D430N;ENSP00000351413:D386N	ENSP00000242786:D479N	D	+	1	0	CD97	14374660	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	1.503000	0.35715	-0.235000	0.09767	-0.719000	0.03609	GAC	CD97	-	NULL		0.567	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	G	NM_078481		14513660	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	missense	SNP	0.000	A
CDC14B	8555	genome.wustl.edu	37	9	99266066	99266066	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:99266066G>C	ENST00000375241.1	-	14	1917	c.1466C>G	c.(1465-1467)tCc>tGc	p.S489C	CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.S450C|CDC14B_ENST00000375242.3_Missense_Mutation_p.S452C|CDC14B_ENST00000265659.2_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	489					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCTTGAAATGGAGAGACTACA	0.393																																																	0													77.0	74.0	75.0					9																	99266066		2203	4300	6503	SO:0001583	missense	8555			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1466C>G	9.37:g.99266066G>C	ENSP00000364389:p.Ser489Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S489C	ENST00000375241.1	37	c.1466	CCDS6722.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473725	0.43942	.	.	ENSG00000081377	ENST00000375241;ENST00000375240;ENST00000375242	D;D;D	0.92595	-3.07;-2.96;-3.04	4.88	4.88	0.63580	.	1.304180	0.04887	N	0.448739	D	0.89230	0.6656	N	0.14661	0.345	0.80722	D	1	P;P;P	0.45396	0.857;0.855;0.698	P;B;B	0.44623	0.455;0.326;0.326	T	0.80348	-0.1420	10	0.54805	T	0.06	-14.3136	15.3465	0.74343	0.0:0.0:1.0:0.0	.	450;489;452	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	C	489;450;452	ENSP00000364389:S489C;ENSP00000364388:S450C;ENSP00000364390:S452C	ENSP00000364388:S450C	S	-	2	0	CDC14B	98305887	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	5.977000	0.70492	2.537000	0.85549	0.557000	0.71058	TCC	CDC14B	-	NULL		0.393	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	G	NM_033331		99266066	-1	no_errors	ENST00000375241	ensembl	human	known	70_37	missense	SNP	1.000	C
CDC25A	993	genome.wustl.edu	37	3	48224493	48224493	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48224493G>C	ENST00000302506.3	-	5	763	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	CDC25A_ENST00000351231.3_Missense_Mutation_p.L119V|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	119					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCTCTTCAGAGCTGGACTA	0.383																																																	0													103.0	94.0	97.0					3																	48224493		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.355C>G	3.37:g.48224493G>C	ENSP00000303706:p.Leu119Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.L119V	ENST00000302506.3	37	c.355	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009679	0.75046	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	6.17	5.3	0.74995	.	0.132775	0.52532	D	0.000078	T	0.53834	0.1821	M	0.80422	2.495	0.41717	D	0.989484	D;D	0.65815	0.995;0.993	D;D	0.67382	0.919;0.951	T	0.56774	-0.7923	10	0.40728	T	0.16	.	11.3845	0.49776	0.0821:0.0:0.9179:0.0	.	119;119	P30304-2;P30304	.;MPIP1_HUMAN	V	119;119;118;119	ENSP00000303706:L119V;ENSP00000343166:L119V;ENSP00000416483:L118V;ENSP00000404285:L119V	ENSP00000303706:L119V	L	-	1	2	CDC25A	48199497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.764000	0.55264	1.627000	0.50400	0.655000	0.94253	CTG	CDC25A	-	pfam_MPI_Phosphatase		0.383	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	G	NM_001789		48224493	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	missense	SNP	0.999	C
CDC25A	993	genome.wustl.edu	37	3	48224499	48224499	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48224499G>A	ENST00000302506.3	-	5	757	c.349C>T	c.(349-351)Cca>Tca	p.P117S	CDC25A_ENST00000351231.3_Missense_Mutation_p.P117S|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	117					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTCAGAGCTGGACTACATCCC	0.368																																																	0													100.0	91.0	94.0					3																	48224499		2203	4300	6503	SO:0001583	missense	993			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.349C>T	3.37:g.48224499G>A	ENSP00000303706:p.Pro117Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.P117S	ENST00000302506.3	37	c.349	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527904	0.85706	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79736	0.4497	M	0.82323	2.585	0.58432	D	0.999997	P;P	0.45986	0.87;0.825	P;P	0.53401	0.453;0.725	T	0.81362	-0.0967	10	0.72032	D	0.01	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	117;117	P30304-2;P30304	.;MPIP1_HUMAN	S	117;117;116;117	ENSP00000303706:P117S;ENSP00000343166:P117S;ENSP00000416483:P116S;ENSP00000404285:P117S	ENSP00000303706:P117S	P	-	1	0	CDC25A	48199503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.318000	0.65829	2.941000	0.99782	0.655000	0.94253	CCA	CDC25A	-	pfam_MPI_Phosphatase		0.368	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	G	NM_001789		48224499	-1	no_errors	ENST00000302506	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH1	999	genome.wustl.edu	37	16	68862194	68862194	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:68862194G>A	ENST00000261769.5	+	14	2473	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	CDH1_ENST00000422392.2_Missense_Mutation_p.G700E|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	761	Required for binding CTNND1 and PSEN1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAAGGAGGCGGAGAAGAGGAC	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													79.0	77.0	78.0					16																	68862194		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2282G>A	16.37:g.68862194G>A	ENSP00000261769:p.Gly761Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G761E	ENST00000261769.5	37	c.2282	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800461	0.90538	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	D;D	0.98717	-5.09;-5.09	5.35	5.35	0.76521	Cadherin, cytoplasmic domain (1);	0.000000	0.43919	D	0.000505	D	0.99369	0.9778	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98888	1.0772	10	0.87932	D	0	.	19.0304	0.92953	0.0:0.0:1.0:0.0	.	700;761	Q9UII8;P12830	.;CADH1_HUMAN	E	761;779;700	ENSP00000261769:G761E;ENSP00000414946:G700E	ENSP00000261769:G761E	G	+	2	0	CDH1	67419695	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.698000	0.98700	2.668000	0.90789	0.655000	0.94253	GGA	CDH1	-	pfam_Cadherin_cytoplasmic-dom		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68862194	+1	no_errors	ENST00000261769	ensembl	human	known	70_37	missense	SNP	1.000	A
CDKN2A	1029	genome.wustl.edu	37	9	21974735	21974735	+	Missense_Mutation	SNP	A	A	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:21974735A>C	ENST00000304494.5	-	1	362	c.92T>G	c.(91-93)cTg>cGg	p.L31R	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L31R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L31R|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L31R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	31					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.0(1)|p.V28_V51del(1)|p.R29fs*9(1)|p.L31P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCTCCAGCAGCGCCCGCAC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1346	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(5)|Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(52)|upper_aerodigestive_tract(48)|ovary(34)|pancreas(32)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											27.0	35.0	32.0					9																	21974735		1969	3960	5929	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.92T>G	9.37:g.21974735A>C	ENSP00000307101:p.Leu31Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.L31R	ENST00000304494.5	37	c.92	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613930	0.87359	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.90197	-2.63;-2.63	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.97021	0.9027	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.938	D	0.97289	0.9923	9	0.87932	D	0	.	10.101	0.42504	0.8316:0.1684:0.0:0.0	.	31;31	P42771;G3XAG3	CD2A1_HUMAN;.	R	31	ENSP00000307101:L31R;ENSP00000394932:L31R	ENSP00000307101:L31R	L	-	2	0	CDKN2A	21964735	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.546000	0.73887	2.165000	0.68154	0.533000	0.62120	CTG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	A	NM_000077		21974735	-1	no_errors	ENST00000446177	ensembl	human	known	70_37	missense	SNP	1.000	C
CDRT4	284040	genome.wustl.edu	37	17	15341337	15341337	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:15341337G>A	ENST00000312177.6	-	4	489	c.209C>T	c.(208-210)tCc>tTc	p.S70F	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	70										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		AATGACGCTGGAAGGTTTATT	0.493																																																	0													175.0	151.0	159.0					17																	15341337		2203	4300	6503	SO:0001583	missense	284040			BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.209C>T	17.37:g.15341337G>A	ENSP00000310031:p.Ser70Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSL9|Q8IZ19	Missense_Mutation	SNP	superfamily_RNA_pol_subH/Rpb5_C	p.S70F	ENST00000312177.6	37	c.209		17	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709036	0.48517	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	T	0.37752	1.18	4.64	2.65	0.31530	.	1.680150	0.03036	N	0.152707	T	0.34832	0.0911	L	0.43152	1.355	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.28964	-1.0027	10	0.62326	D	0.03	-12.6849	6.8209	0.23857	0.2098:0.0:0.7902:0.0	.	70	Q8N9R6	CDRT4_HUMAN	F	71;70	ENSP00000310031:S70F	ENSP00000310031:S70F	S	-	2	0	CDRT4	15282062	0.001000	0.12720	0.001000	0.08648	0.090000	0.18270	0.184000	0.16939	0.584000	0.29591	0.591000	0.81541	TCC	CDRT4	-	superfamily_RNA_pol_subH/Rpb5_C		0.493	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	CDRT4	HGNC	protein_coding	OTTHUMT00000130383.7	G	NM_173622		15341337	-1	no_errors	ENST00000312177	ensembl	human	known	70_37	missense	SNP	0.001	A
CECR1	51816	genome.wustl.edu	37	22	17670774	17670774	+	Intron	SNP	A	A	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:17670774A>T	ENST00000399839.1	-	6	1243				CECR1_ENST00000330232.4_Intron|CECR1_ENST00000399837.2_Intron|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000262607.3_Intron|CECR1_ENST00000449907.2_Intron	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1						adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTCCACCCAGACAGGCATCCT	0.617																																																	0																																										SO:0001627	intron_variant	51816			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.972+57T>A	22.37:g.17670774A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	RNA	SNP	-	NULL	ENST00000399839.1	37	NULL	CCDS13742.1	22																																																																																			CECR1	-	-		0.617	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	A			17670774	-1	no_errors	ENST00000480276	ensembl	human	putative	70_37	rna	SNP	0.000	T
CENPF	1063	genome.wustl.edu	37	1	214819778	214819778	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:214819778C>G	ENST00000366955.3	+	13	7033	c.6865C>G	c.(6865-6867)Cta>Gta	p.L2289V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2385	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAACAGAGTCTAGACCCACC	0.458																																					Colon(80;575 1284 11000 14801 43496)												0													68.0	74.0	72.0					1																	214819778		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6865C>G	1.37:g.214819778C>G	ENSP00000355922:p.Leu2289Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.L2289V	ENST00000366955.3	37	c.6865	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398551	0.42512	.	.	ENSG00000117724	ENST00000366955	T	0.04360	3.64	5.02	2.09	0.27110	.	0.634440	0.12078	N	0.501556	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	P	0.45044	0.849	B	0.39771	0.309	T	0.44483	-0.9325	10	0.33141	T	0.24	.	5.1499	0.15004	0.1425:0.6279:0.0:0.2295	.	2385	P49454	CENPF_HUMAN	V	2289	ENSP00000355922:L2289V	ENSP00000355922:L2289V	L	+	1	2	CENPF	212886401	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	0.026000	0.13599	0.700000	0.31782	0.514000	0.50259	CTA	CENPF	-	NULL		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	C	NM_016343		214819778	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.000	G
CEP128	145508	genome.wustl.edu	37	14	80993257	80993257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:80993257G>A	ENST00000555265.1	-	23	3403	c.3028C>T	c.(3028-3030)Cag>Tag	p.Q1010*	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q1010*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1010						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGGTGATGCTGAAGAGAATTT	0.353																																																	0													95.0	95.0	95.0					14																	80993257		2203	4300	6503	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3028C>T	14.37:g.80993257G>A	ENSP00000451162:p.Gln1010*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	NULL	p.Q1010*	ENST00000555265.1	37	c.3028	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.855660|8.855660	0.98978|0.98978	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265|ENST00000556061	.|.	.|.	.|.	5.73|5.73	4.82|4.82	0.62117|0.62117	.|.	0.250948|.	0.32836|.	N|.	0.005595|.	.|T	.|0.70727	.|0.3257	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|4	0.49607|.	T|.	0.09|.	.|.	14.8169|14.8169	0.70041|0.70041	0.0:0.0:0.8545:0.1455|0.0:0.0:0.8545:0.1455	.|.	.|.	.|.	.|.	X|L	1010|75	.|.	ENSP00000281129:Q1010X|.	Q|S	-|-	1|2	0|0	CEP128|CEP128	80063010|80063010	1.000000|1.000000	0.71417|0.71417	0.105000|0.105000	0.21289|0.21289	0.397000|0.397000	0.30659|0.30659	4.121000|4.121000	0.57904|0.57904	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CAG|TCA	CEP128	-	NULL		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	G	NM_152446		80993257	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CEP170	9859	genome.wustl.edu	37	1	243289744	243289744	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:243289744G>A	ENST00000366542.1	-	0	4813				CEP170_ENST00000366543.1_3'UTR|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_3'UTR|CEP170_ENST00000366544.1_3'UTR|CEP170_ENST00000481987.1_3'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAACAATCAAGAGAAAGTCAT	0.388																																																	0													27.0	25.0	25.0					1																	243289744		1898	4115	6013	SO:0001624	3_prime_UTR_variant	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.*7C>T	1.37:g.243289744G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	RNA	SNP	-	NULL	ENST00000366542.1	37	NULL	CCDS44339.1	1																																																																																			CEP170	-	-		0.388	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243289744	-1	no_errors	ENST00000466495	ensembl	human	known	70_37	rna	SNP	0.206	A
CEP170	9859	genome.wustl.edu	37	1	243303301	243303301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:243303301G>A	ENST00000366542.1	-	16	4219	c.4168C>T	c.(4168-4170)Caa>Taa	p.Q1390*	CEP170_ENST00000366543.1_Nonsense_Mutation_p.Q1266*|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Nonsense_Mutation_p.Q99*|CEP170_ENST00000366544.1_Nonsense_Mutation_p.Q1292*|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000481987.1_Nonsense_Mutation_p.Q126*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1390	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTGCTGCTTGAGGTCTTGGA	0.438																																																	0													60.0	52.0	55.0					1																	243303301		1816	4057	5873	SO:0001587	stop_gained	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4168C>T	1.37:g.243303301G>A	ENSP00000355500:p.Gln1390*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.Q1390*	ENST00000366542.1	37	c.4168	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.484725	0.99184	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145	.	.	.	5.27	5.27	0.74061	.	0.164826	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-6.7811	18.2502	0.90000	0.0:0.0:1.0:0.0	.	.	.	.	X	1390;1292;1266;126;325;99;182;99;99	.	ENSP00000355500:Q1390X	Q	-	1	0	CEP170	241369924	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	7.066000	0.76734	2.626000	0.88956	0.557000	0.71058	CAA	CEP170	-	NULL		0.438	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243303301	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CFP	5199	genome.wustl.edu	37	X	47486689	47486689	+	Missense_Mutation	SNP	G	G	A	rs132630260		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47486689G>A	ENST00000396992.3	-	5	737	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Missense_Mutation_p.S206L|CFP_ENST00000247153.3_Missense_Mutation_p.S206L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	206	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCAGGAGGCTGAGCAGGGGGT	0.657																																																	0			GRCh37	CM001763	CFP	M	rs132630260						29.0	34.0	33.0					X																	47486689		2200	4297	6497	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.617C>T	X.37:g.47486689G>A	ENSP00000380189:p.Ser206Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S206L	ENST00000396992.3	37	c.617	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835220	0.50951	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.39	5.39	0.77823	.	0.155218	0.44688	D	0.000424	D	0.84520	0.5490	M	0.91196	3.185	0.58432	D	0.999997	B;D	0.76494	0.105;0.999	B;D	0.79108	0.238;0.992	D	0.87515	0.2442	10	0.62326	D	0.03	.	13.5161	0.61541	0.0:0.0:1.0:0.0	.	142;206	B3KVK6;P27918	.;PROP_HUMAN	L	206;206;206;71	ENSP00000380189:S206L;ENSP00000247153:S206L;ENSP00000366204:S206L;ENSP00000418258:S71L	ENSP00000247153:S206L	S	-	2	0	CFP	47371633	1.000000	0.71417	0.828000	0.32881	0.527000	0.34593	4.197000	0.58413	2.256000	0.74724	0.596000	0.82720	TCA	CFP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.657	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	G	NM_002621		47486689	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	missense	SNP	0.995	A
CGN	57530	genome.wustl.edu	37	1	151508255	151508255	+	Splice_Site	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:151508255G>A	ENST00000271636.7	+	18	3211		c.e18-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin						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)			GTCCCTCTCAGAACAAGGACC	0.567																																																	0													64.0	68.0	67.0					1																	151508255		2203	4300	6503	SO:0001630	splice_region_variant	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.3079-1G>A	1.37:g.151508255G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Splice_Site	SNP	-	e17-1	ENST00000271636.7	37	c.3079-1	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818774	0.32145	.	.	ENSG00000143375	ENST00000271636	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGN	149774879	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.304000	0.65744	2.756000	0.94617	0.563000	0.77884	.	CGN	-	-		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	G	NM_020770	Intron	151508255	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	splice_site	SNP	1.000	A
TUFT1	7286	genome.wustl.edu	37	1	151509793	151509793	+	5'Flank	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:151509793G>A	ENST00000368849.3	+	0	0				CGN_ENST00000271636.7_Missense_Mutation_p.E1195K|TUFT1_ENST00000353024.3_5'Flank|TUFT1_ENST00000538902.1_5'Flank|TUFT1_ENST00000368848.2_5'Flank|TUFT1_ENST00000392712.3_5'Flank	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1						bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	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)			ACTGCTTACGGAGAGCAACCT	0.557																																																	0													125.0	94.0	105.0					1																	151509793		2203	4300	6503	SO:0001631	upstream_gene_variant	57530			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536		1.37:g.151509793G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	pfam_Myosin_tail	p.E1195K	ENST00000368849.3	37	c.3583	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925557	0.92319	.	.	ENSG00000143375	ENST00000271636	T	0.71579	-0.58	4.64	4.64	0.57946	.	0.048728	0.85682	D	0.000000	T	0.69682	0.3138	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.75059	-0.3451	10	0.87932	D	0	-29.1298	16.5878	0.84732	0.0:0.0:1.0:0.0	.	1189	Q9P2M7	CING_HUMAN	K	1195	ENSP00000271636:E1195K	ENSP00000271636:E1195K	E	+	1	0	CGN	149776417	1.000000	0.71417	0.990000	0.47175	0.903000	0.53119	8.704000	0.91351	2.566000	0.86566	0.557000	0.71058	GAG	CGN	-	NULL		0.557	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151509793	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.999	A
CHD3	1107	genome.wustl.edu	37	17	7814210	7814210	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7814210G>A	ENST00000330494.7	+	39	5950	c.5800G>A	c.(5800-5802)Gcc>Acc	p.A1934T	CHD3_ENST00000358181.4_Missense_Mutation_p.A1900T|CHD3_ENST00000380358.4_Missense_Mutation_p.A1993T|AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1934	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTACGGGGCGGCCTTCAGCGC	0.617																																																	0													72.0	84.0	80.0					17																	7814210		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5800G>A	17.37:g.7814210G>A	ENSP00000332628:p.Ala1934Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1934T	ENST00000330494.7	37	c.5800	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.171|9.171	1.021162|1.021162	0.19433|0.19433	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90385|.	-2.66;-2.57;-2.6|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.41500|.	D|.	0.000877|.	T|T	0.23532|0.23532	0.0569|0.0569	N|N	0.03608|0.03608	-0.345|-0.345	0.36821|0.36821	D|D	0.886373|0.886373	B;B;B;B;B|.	0.15473|.	0.012;0.004;0.005;0.005;0.013|.	B;B;B;B;B|.	0.10450|.	0.003;0.001;0.005;0.002;0.003|.	T|T	0.24728|0.24728	-1.0152|-1.0152	10|6	0.22706|0.11485	T|T	0.39|0.65	-9.1399|-9.1399	8.8709|8.8709	0.35316|0.35316	0.1692:0.0:0.8308:0.0|0.1692:0.0:0.8308:0.0	.|.	913;511;1900;1934;1993|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|D	1993;1900;1934|277;171	ENSP00000369716:A1993T;ENSP00000350907:A1900T;ENSP00000332628:A1934T|.	ENSP00000332628:A1934T|ENSP00000395252:G277D	A|G	+|+	1|2	0|0	CHD3|CHD3	7754935|7754935	0.520000|0.520000	0.26250|0.26250	0.986000|0.986000	0.45419|0.45419	0.353000|0.353000	0.29299|0.29299	1.002000|1.002000	0.29796|0.29796	2.628000|2.628000	0.89032|0.89032	0.604000|0.604000	0.83254|0.83254	GCC|GGC	CHD3	-	NULL		0.617	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7814210	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	0.968	A
CHD5	26038	genome.wustl.edu	37	1	6211203	6211203	+	Missense_Mutation	SNP	C	C	T	rs267598681		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:6211203C>T	ENST00000262450.3	-	7	982	c.883G>A	c.(883-885)Gag>Aag	p.E295K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E295K(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCCTCTCATCTTCTTCA	0.622																																																	1	Substitution - Missense(1)	breast(1)											86.0	74.0	78.0					1																	6211203		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.883G>A	1.37:g.6211203C>T	ENSP00000262450:p.Glu295Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E295K	ENST00000262450.3	37	c.883	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	6.588	0.476777	0.12521	.	.	ENSG00000116254	ENST00000262450	D	0.90676	-2.71	4.0	3.07	0.35406	.	0.222920	0.31821	U	0.007001	D	0.85919	0.5809	L	0.47716	1.5	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.79310	-0.1856	10	0.19590	T	0.45	-14.5078	13.9665	0.64211	0.0:0.847:0.153:0.0	.	295	Q8TDI0	CHD5_HUMAN	K	295	ENSP00000262450:E295K	ENSP00000262450:E295K	E	-	1	0	CHD5	6133790	0.987000	0.35691	0.657000	0.29651	0.177000	0.22998	2.849000	0.48286	0.810000	0.34279	0.457000	0.33378	GAG	CHD5	-	NULL		0.622	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	C	NM_015557		6211203	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	missense	SNP	0.959	T
CHD6	84181	genome.wustl.edu	37	20	40034123	40034123	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:40034123G>A	ENST00000373233.3	-	37	7435	c.7258C>T	c.(7258-7260)Ctt>Ttt	p.L2420F	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2420					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTTCTGGAAGAAACCCCTGG	0.567																																																	0													21.0	25.0	24.0					20																	40034123		2201	4299	6500	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7258C>T	20.37:g.40034123G>A	ENSP00000362330:p.Leu2420Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L2420F	ENST00000373233.3	37	c.7258	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825384	0.71143	.	.	ENSG00000124177	ENST00000373233	T	0.46063	0.88	5.53	5.53	0.82687	BRK domain (1);	0.119627	0.38164	N	0.001799	T	0.56156	0.1966	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55823	-0.8080	10	0.66056	D	0.02	-15.4501	10.3844	0.44132	0.1142:0.0:0.8858:0.0	.	2420	Q8TD26	CHD6_HUMAN	F	2420	ENSP00000362330:L2420F	ENSP00000362330:L2420F	L	-	1	0	CHD6	39467537	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.693000	0.61753	2.882000	0.98803	0.655000	0.94253	CTT	CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	G			40034123	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	A
CHST7	56548	genome.wustl.edu	37	X	46433633	46433633	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:46433633C>T	ENST00000276055.3	+	1	415	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	89					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CAAGCAACCTCAGCGGCGCTG	0.701																																																	0													20.0	16.0	17.0					X																	46433633		2203	4299	6502	SO:0001819	synonymous_variant	56548			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.267C>T	X.37:g.46433633C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75667	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L89	ENST00000276055.3	37	c.267	CCDS14268.1	X																																																																																			CHST7	-	pirsf_Carbohydrate_sulfotransferase		0.701	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	C	NM_019886		46433633	+1	no_errors	ENST00000276055	ensembl	human	known	70_37	silent	SNP	0.282	T
CLASRP	11129	genome.wustl.edu	37	19	45567797	45567797	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:45567797C>T	ENST00000221455.3	+	13	1416	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	CLASRP_ENST00000391953.4_Missense_Mutation_p.R378W|CLASRP_ENST00000544944.2_Missense_Mutation_p.R440W	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	440	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TAGCCGTGGCCGGCGGCACTC	0.756																																																	0													3.0	5.0	4.0					19																	45567797		1811	3617	5428	SO:0001583	missense	11129			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1318C>T	19.37:g.45567797C>T	ENSP00000221455:p.Arg440Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.R440W	ENST00000221455.3	37	c.1318	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544664	0.65198	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.40476	1.51;2.76;1.51;1.03	4.52	4.52	0.55395	.	0.000000	0.33235	U	0.005128	T	0.48642	0.1511	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;0.997	D;D;P	0.67725	0.953;0.916;0.825	T	0.51957	-0.8639	10	0.87932	D	0	-13.5887	12.6473	0.56742	0.0:1.0:0.0:0.0	.	378;440;440	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	W	440;440;378;440	ENSP00000221455:R440W;ENSP00000375814:R440W;ENSP00000375815:R378W;ENSP00000438702:R440W	ENSP00000221455:R440W	R	+	1	2	CLASRP	50259637	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.318000	0.33643	2.354000	0.79902	0.655000	0.94253	CGG	CLASRP	-	NULL		0.756	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	C	NM_007056		45567797	+1	no_errors	ENST00000221455	ensembl	human	known	70_37	missense	SNP	1.000	T
CLCN5	1184	genome.wustl.edu	37	X	49855078	49855078	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:49855078G>A	ENST00000307367.2	+	10	2131	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CLCN5_ENST00000376088.3_Missense_Mutation_p.E684K|CLCN5_ENST00000376108.3_Missense_Mutation_p.E614K|CLCN5_ENST00000376091.3_Missense_Mutation_p.E684K			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	614	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CATAATCAGTGAAACCACTTA	0.468																																																	0													72.0	60.0	64.0					X																	49855078		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1840G>A	X.37:g.49855078G>A	ENSP00000304257:p.Glu614Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.E684K	ENST00000307367.2	37	c.2050	CCDS14328.1	X	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110151	0.56398	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.78	5.78	0.91487	Cystathionine beta-synthase, core (3);	0.218018	0.52532	D	0.000073	D	0.90497	0.7023	L	0.42581	1.335	0.58432	D	0.999999	B;B	0.18610	0.004;0.029	B;B	0.23852	0.021;0.049	D	0.86525	0.1818	10	0.16896	T	0.51	-1.0229	17.6538	0.88172	0.0:0.0:1.0:0.0	.	614;684	P51795;P51795-2	CLCN5_HUMAN;.	K	684;516;684;614;614	ENSP00000365256:E684K;ENSP00000365259:E684K;ENSP00000365276:E614K;ENSP00000304257:E614K	ENSP00000304257:E614K	E	+	1	0	CLCN5	49741818	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.234000	0.65343	2.441000	0.82636	0.594000	0.82650	GAA	CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	G			49855078	+1	no_errors	ENST00000376088	ensembl	human	known	70_37	missense	SNP	0.993	A
CLCN6	1185	genome.wustl.edu	37	1	11894623	11894623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:11894623G>A	ENST00000346436.6	+	17	1821	c.1769G>A	c.(1768-1770)tGg>tAg	p.W590*	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Nonsense_Mutation_p.W590*|CLCN6_ENST00000376487.3_Nonsense_Mutation_p.W568*	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	590					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTGGAATGGGAGACAGAG	0.468																																																	0													123.0	125.0	124.0					1																	11894623		2203	4300	6503	SO:0001587	stop_gained	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1769G>A	1.37:g.11894623G>A	ENSP00000234488:p.Trp590*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Nonsense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.W590*	ENST00000346436.6	37	c.1769	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.227299	0.95173	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.5281	17.9387	0.89020	0.0:0.0:1.0:0.0	.	.	.	.	X	590;568;590	.	ENSP00000234488:W590X	W	+	2	0	CLCN6	11817210	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.434000	0.97515	2.468000	0.83385	0.462000	0.41574	TGG	CLCN6	-	superfamily_Cl-channel_core		0.468	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11894623	+1	no_errors	ENST00000346436	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CLSPN	63967	genome.wustl.edu	37	1	36226099	36226099	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:36226099C>T	ENST00000318121.3	-	8	1480	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	CLSPN_ENST00000373220.3_Missense_Mutation_p.E475K|CLSPN_ENST00000251195.5_Missense_Mutation_p.E475K|CLSPN_ENST00000520551.1_Missense_Mutation_p.E475K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	475					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTGCTGCTCAGGCTCTTCC	0.468																																																	0													200.0	190.0	193.0					1																	36226099		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1423G>A	1.37:g.36226099C>T	ENSP00000312995:p.Glu475Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.E475K	ENST00000318121.3	37	c.1423	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.905789	0.00512	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.22945	1.93;1.93;1.97;1.94	5.32	-0.176	0.13311	.	1.152280	0.05984	N	0.644933	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.0;0.009	B;B	0.08055	0.001;0.003	T	0.32824	-0.9892	10	0.15066	T	0.55	2.9514	8.6327	0.33928	0.0:0.4615:0.0:0.5385	.	475;475	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	475	ENSP00000251195:E475K;ENSP00000312995:E475K;ENSP00000362317:E475K;ENSP00000428848:E475K	ENSP00000251195:E475K	E	-	1	0	CLSPN	35998686	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.360000	0.07622	-0.066000	0.12998	-0.469000	0.05056	GAG	CLSPN	-	NULL		0.468	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	C	NM_022111		36226099	-1	no_errors	ENST00000318121	ensembl	human	known	70_37	missense	SNP	0.000	T
CNGB1	1258	genome.wustl.edu	37	16	57937756	57937756	+	Missense_Mutation	SNP	C	C	T	rs373209562		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57937756C>T	ENST00000251102.8	-	27	2824	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E916K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	922					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGGTGTACTCGTACCAGGTC	0.592																																					Colon(156;1293 1853 16336 28962 38659)												0								C	LYS/GLU	2,4214		0,2,2106	117.0	126.0	123.0		2764	4.0	1.0	16		123	0,8446		0,0,4223	no	missense	CNGB1	NM_001297.4	56	0,2,6329	TT,TC,CC		0.0,0.0474,0.0158	benign	922/1252	57937756	2,12660	2108	4223	6331	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2764G>A	16.37:g.57937756C>T	ENSP00000251102:p.Glu922Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E922K	ENST00000251102.8	37	c.2764	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048563	0.75846	4.74E-4	0.0	ENSG00000070729	ENST00000251102	D	0.97016	-4.21	4.95	3.99	0.46301	Cyclic nucleotide-binding-like (1);	0.274240	0.35772	N	0.002989	D	0.91392	0.7284	L	0.34521	1.04	0.80722	D	1	P;B	0.42039	0.769;0.446	B;B	0.32677	0.15;0.087	D	0.90003	0.4116	10	0.48119	T	0.1	.	12.1004	0.53780	0.0:0.9169:0.0:0.0831	.	294;922	Q14028-2;Q14028	.;CNGB1_HUMAN	K	922	ENSP00000251102:E922K	ENSP00000251102:E922K	E	-	1	0	CNGB1	56495257	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.280000	0.51677	1.076000	0.40961	0.655000	0.94253	GAG	CNGB1	-	superfamily_cNMP-bd-like		0.592	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57937756	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGB1	1258	genome.wustl.edu	37	16	57957253	57957253	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57957253C>T	ENST00000251102.8	-	18	1627	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E517K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	523					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTGAGCTCTTCAGCCTCATCA	0.582																																					Colon(156;1293 1853 16336 28962 38659)												0													64.0	68.0	67.0					16																	57957253		2035	4199	6234	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1567G>A	16.37:g.57957253C>T	ENSP00000251102:p.Glu523Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E523K	ENST00000251102.8	37	c.1567	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272411	0.80580	.	.	ENSG00000070729	ENST00000251102	T	0.27720	1.65	4.97	4.97	0.65823	.	0.000000	0.49916	D	0.000123	T	0.43875	0.1267	M	0.74881	2.28	0.80722	D	1	D	0.53885	0.963	P	0.50537	0.643	T	0.37526	-0.9702	10	0.42905	T	0.14	.	13.6163	0.62110	0.0:1.0:0.0:0.0	.	523	Q14028	CNGB1_HUMAN	K	523	ENSP00000251102:E523K	ENSP00000251102:E523K	E	-	1	0	CNGB1	56514754	0.917000	0.31117	0.992000	0.48379	0.557000	0.35523	1.626000	0.37039	2.576000	0.86940	0.655000	0.94253	GAA	CNGB1	-	NULL		0.582	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57957253	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	0.991	T
CMIP	80790	genome.wustl.edu	37	16	81703836	81703836	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:81703836G>A	ENST00000537098.3	+	8	987	c.915G>A	c.(913-915)aaG>aaA	p.K305K	CMIP_ENST00000398040.4_Silent_p.K152K|CMIP_ENST00000539778.2_Silent_p.K211K|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	305						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AAGTGGTGAAGAAGTTCATTC	0.567																																																	0													61.0	66.0	64.0					16																	81703836		1982	4159	6141	SO:0001819	synonymous_variant	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.915G>A	16.37:g.81703836G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9C0G9	Silent	SNP	NULL	p.K305	ENST00000537098.3	37	c.915	CCDS54044.1	16																																																																																			CMIP	-	NULL		0.567	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	G	NM_030629		81703836	+1	no_errors	ENST00000537098	ensembl	human	known	70_37	silent	SNP	1.000	A
CNKSR2	22866	genome.wustl.edu	37	X	21670430	21670430	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:21670430G>C	ENST00000379510.3	+	22	2932	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CNKSR2_ENST00000425654.2_Missense_Mutation_p.E936Q	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	966					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCAGGCCAGAGAAGGGGAAGT	0.358																																																	0													78.0	67.0	71.0					X																	21670430		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2896G>C	X.37:g.21670430G>C	ENSP00000368824:p.Glu966Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.E966Q	ENST00000379510.3	37	c.2896	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610878	0.46527	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.22743	1.94;2.02	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.68952	2.095	0.80722	D	1	P;D	0.89917	0.829;1.0	B;D	0.87578	0.417;0.998	T	0.39375	-0.9617	10	0.54805	T	0.06	-21.5246	19.0114	0.92874	0.0:0.0:1.0:0.0	.	936;966	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	Q	936;966	ENSP00000397906:E936Q;ENSP00000368824:E966Q	ENSP00000368824:E966Q	E	+	1	0	CNKSR2	21580351	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.481000	0.90437	2.439000	0.82584	0.544000	0.68410	GAA	CNKSR2	-	NULL		0.358	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21670430	+1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C
CNPY3	10695	genome.wustl.edu	37	6	42897393	42897393	+	Missense_Mutation	SNP	G	G	A	rs548586566		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:42897393G>A	ENST00000372836.4	+	1	456	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CNPY3_ENST00000394142.3_Missense_Mutation_p.E29K	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	29					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			gcCGGCCCCGGAGCTGGGCCC	0.701																																																	0													4.0	6.0	5.0					6																	42897393		1967	3922	5889	SO:0001583	missense	10695			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.85G>A	6.37:g.42897393G>A	ENSP00000361926:p.Glu29Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	pfam_DUF3456	p.E29K	ENST00000372836.4	37	c.85	CCDS4875.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948208	0.73787	.	.	ENSG00000137161	ENST00000372836;ENST00000394142	T	0.21543	2.0	4.65	3.77	0.43336	.	0.746140	0.12754	N	0.441954	T	0.03695	0.0105	N	0.12182	0.205	0.22719	N	0.998813	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	10	0.20519	T	0.43	-10.3883	9.9807	0.41811	0.0975:0.0:0.9025:0.0	.	29	Q9BT09	CNPY3_HUMAN	K	29	ENSP00000361926:E29K	ENSP00000361926:E29K	E	+	1	0	CNPY3	43005371	0.992000	0.36948	0.990000	0.47175	0.749000	0.42624	2.509000	0.45459	1.157000	0.42530	0.563000	0.77884	GAG	CNPY3	-	NULL		0.701	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	G	NM_006586		42897393	+1	no_errors	ENST00000372836	ensembl	human	known	70_37	missense	SNP	0.977	A
CNTN3	5067	genome.wustl.edu	37	3	74315737	74315737	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:74315737C>T	ENST00000263665.6	-	21	2908	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	961	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGCACAAGTTCAGCTGAAGTT	0.383																																																	0													246.0	223.0	231.0					3																	74315737		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2881G>A	3.37:g.74315737C>T	ENSP00000263665:p.Glu961Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK50|Q9H039	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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E961K	ENST00000263665.6	37	c.2881	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965815	0.92855	.	.	ENSG00000113805	ENST00000263665	T	0.56941	0.43	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.75615	2.305	0.80722	D	1	P	0.44478	0.836	P	0.60541	0.876	T	0.67193	-0.5732	10	0.30078	T	0.28	.	18.8375	0.92168	0.0:1.0:0.0:0.0	.	961	Q9P232	CNTN3_HUMAN	K	961	ENSP00000263665:E961K	ENSP00000263665:E961K	E	-	1	0	CNTN3	74398427	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.949000	0.75971	2.534000	0.85438	0.655000	0.94253	GAA	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	C	NM_020872		74315737	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74316501	74316503	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	AAC	AAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:74316501_74316503delAAC	ENST00000263665.6	-	20	2758_2760	c.2731_2733delGTT	c.(2731-2733)gttdel	p.V911del	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	911	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCATTCCAAACAACATTTCCT	0.384																																																	0																																										SO:0001651	inframe_deletion	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2731_2733delGTT	3.37:g.74316504_74316506delAAC	ENSP00000263665:p.Val911del	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK50|Q9H039	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V911in_frame_del	ENST00000263665.6	37	c.2733_2731	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.384	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	AAC	NM_020872		74316503	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	in_frame_del	DEL	0.971:0.997:0.998	-
COBLL1	22837	genome.wustl.edu	37	2	165586569	165586569	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:165586569G>C	ENST00000392717.2	-	4	405	c.401C>G	c.(400-402)tCa>tGa	p.S134*	COBLL1_ENST00000409184.3_Nonsense_Mutation_p.S134*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.S149*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.S96*|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Nonsense_Mutation_p.S96*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	134						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGTAACTTGATGGATTTAA	0.348																																																	0													144.0	130.0	135.0					2																	165586569		2203	4300	6503	SO:0001587	stop_gained	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.401C>G	2.37:g.165586569G>C	ENSP00000376478:p.Ser134*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.S149*	ENST00000392717.2	37	c.446		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.262517|5.262517	0.95399|0.95399	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000452626|ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.193996	.|0.46758	.|D	.|0.000266	T|.	0.82029|.	0.4948|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83606|.	0.0131|.	3|.	.|0.87932	.|D	.|0	-13.9508|-13.9508	19.8056|19.8056	0.96531|0.96531	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	98|96;96;134;134;149;71;96;103;118;96	.|.	.|ENSP00000194871:S149X	I|S	-|-	3|2	3|0	COBLL1|COBLL1	165294815|165294815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.756000|9.756000	0.98918|0.98918	2.688000|2.688000	0.91661|0.91661	0.650000|0.650000	0.86243|0.86243	ATC|TCA	COBLL1	-	pfam_Cordon-bleu_domain		0.348	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		G	NM_014900		165586569	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	nonsense	SNP	1.000	C
COG2	22796	genome.wustl.edu	37	1	230825835	230825835	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:230825835G>A	ENST00000366669.4	+	16	1985	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	COG2_ENST00000535166.1_Missense_Mutation_p.D508N|COG2_ENST00000546013.1_Missense_Mutation_p.D313N|COG2_ENST00000366668.3_Missense_Mutation_p.D623N|COG2_ENST00000534989.1_Missense_Mutation_p.D565N|COG2_ENST00000490900.1_3'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	624					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGACACAAGGATAAGCTCAA	0.463																																																	0													116.0	118.0	118.0					1																	230825835		2203	4300	6503	SO:0001583	missense	22796			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1870G>A	1.37:g.230825835G>A	ENSP00000355629:p.Asp624Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.D624N	ENST00000366669.4	37	c.1870	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972209	0.18736	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.91	4.05	0.47172	COG complex component, COG2, C-terminal (1);	0.373223	0.35615	N	0.003088	T	0.23054	0.0557	N	0.16233	0.39	0.09310	N	0.999994	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.21759	-1.0236	10	0.09843	T	0.71	-9.5267	9.3294	0.38012	0.277:0.0:0.723:0.0	.	623;624	Q86U99;Q14746	.;COG2_HUMAN	N	624;508;623;565;313	ENSP00000355629:D624N;ENSP00000445724:D508N;ENSP00000355628:D623N;ENSP00000440349:D565N;ENSP00000442147:D313N	ENSP00000355628:D623N	D	+	1	0	COG2	228892458	0.775000	0.28604	0.105000	0.21289	0.765000	0.43378	1.639000	0.37176	0.844000	0.35094	0.655000	0.94253	GAT	COG2	-	pfam_COG_complex_COG2_C		0.463	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	G	NM_007357		230825835	+1	no_errors	ENST00000366669	ensembl	human	known	70_37	missense	SNP	0.136	A
COL13A1	1305	genome.wustl.edu	37	10	71582155	71582155	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:71582155G>A	ENST00000398978.3	+	2	817	c.325G>A	c.(325-327)Gag>Aag	p.E109K	COL13A1_ENST00000522165.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E109K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E109K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E109K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E109K|COL13A1_ENST00000520267.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E109K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E109K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E109K|COL13A1_ENST00000356340.3_Missense_Mutation_p.E109K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E109K	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GAGGCGCCGGGAGGCCCCAAA	0.562																																																	0													28.0	30.0	30.0					10																	71582155		1906	4133	6039	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.325G>A	10.37:g.71582155G>A	ENSP00000381949:p.Glu109Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Collagen	p.E109K	ENST00000398978.3	37	c.325	CCDS44419.1	10	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781784	0.70222	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-2.98;-2.76;-2.85;-2.87;-3.05;-2.83;-2.9;-2.72;-2.79;-2.84;-2.82;-2.82;-2.79;-2.7;-2.76;-2.74	5.56	5.56	0.83823	.	0.000000	0.43919	D	0.000514	D	0.92021	0.7472	N	0.25789	0.76	0.33514	D	0.591525	B;D;B;B;B;B;B;B;B;B;B;B;D;B;B;B;B;B	0.61697	0.247;0.99;0.361;0.247;0.247;0.247;0.247;0.247;0.247;0.415;0.361;0.361;0.986;0.361;0.361;0.361;0.247;0.361	B;D;B;B;B;B;B;B;B;B;B;B;D;B;B;B;B;B	0.72982	0.057;0.979;0.121;0.057;0.057;0.057;0.057;0.057;0.057;0.285;0.121;0.121;0.968;0.121;0.121;0.121;0.057;0.121	D	0.90122	0.4200	10	0.13853	T	0.58	-9.4551	15.0251	0.71663	0.0:0.0:1.0:0.0	.	109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109;109	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	109	ENSP00000381946:E109K;ENSP00000381943:E109K;ENSP00000381940:E109K;ENSP00000381938:E109K;ENSP00000381936:E109K;ENSP00000381941:E109K;ENSP00000348695:E109K;ENSP00000381944:E109K;ENSP00000381945:E109K;ENSP00000381949:E109K;ENSP00000346553:E109K;ENSP00000350463:E109K;ENSP00000428057:E109K;ENSP00000430061:E109K;ENSP00000428342:E109K;ENSP00000430173:E109K	ENSP00000346553:E109K	E	+	1	0	COL13A1	71252161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.701000	0.61810	2.623000	0.88846	0.561000	0.74099	GAG	COL13A1	-	NULL		0.562	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71582155	+1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	1.000	A
COL17A1	1308	genome.wustl.edu	37	10	105793763	105793763	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:105793763C>G	ENST00000353479.5	-	52	4386	c.4096G>C	c.(4096-4098)Gac>Cac	p.D1366H	COL17A1_ENST00000369733.3_Missense_Mutation_p.D1284H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1366	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGCAAAGTCAGCTCCCAAT	0.582																																																	0													111.0	107.0	109.0					10																	105793763		2203	4300	6503	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4096G>C	10.37:g.105793763C>G	ENSP00000340937:p.Asp1366His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D1366H	ENST00000353479.5	37	c.4096	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	6.110	0.388504	0.11581	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91180	-2.8;-2.77	4.87	1.89	0.25635	.	0.435447	0.19230	N	0.119435	T	0.79811	0.4510	N	0.14661	0.345	0.27550	N	0.950512	P	0.38642	0.641	B	0.38500	0.275	T	0.72808	-0.4181	10	0.87932	D	0	-1.4997	4.1945	0.10437	0.1999:0.527:0.0:0.2731	.	1366	Q9UMD9	COHA1_HUMAN	H	1366;1284	ENSP00000340937:D1366H;ENSP00000358748:D1284H	ENSP00000340937:D1366H	D	-	1	0	COL17A1	105783753	0.785000	0.28726	0.139000	0.22197	0.120000	0.20174	1.441000	0.35035	0.089000	0.17243	0.561000	0.74099	GAC	COL17A1	-	NULL		0.582	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	C	NM_130778, NM_000494		105793763	-1	no_errors	ENST00000353479	ensembl	human	known	70_37	missense	SNP	0.267	G
COL19A1	1310	genome.wustl.edu	37	6	70875853	70875853	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:70875853G>A	ENST00000322773.4	+	37	2523	c.2421G>A	c.(2419-2421)ggG>ggA	p.G807G	COL19A1_ENST00000393344.1_Silent_p.G429G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	807	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GACCCCCTGGGAAACCCGGAC	0.428																																																	0													88.0	97.0	94.0					6																	70875853		2203	4300	6503	SO:0001819	synonymous_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2421G>A	6.37:g.70875853G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G807	ENST00000322773.4	37	c.2421	CCDS4970.1	6																																																																																			COL19A1	-	pfam_Collagen		0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	G			70875853	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	silent	SNP	0.992	A
COL24A1	255631	genome.wustl.edu	37	1	86313364	86313364	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:86313364C>T	ENST00000370571.2	-	39	3812	c.3446G>A	c.(3445-3447)gGa>gAa	p.G1149E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1149E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1149	Collagen-like 11.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCTCTAGTTCCTCTGGCACC	0.468																																																	0													139.0	134.0	136.0					1																	86313364		1923	4121	6044	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3446G>A	1.37:g.86313364C>T	ENSP00000359603:p.Gly1149Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1149E	ENST00000370571.2	37	c.3446	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840715	0.51057	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99619	-6.28;-6.28	5.53	5.53	0.82687	.	0.000000	0.39544	N	0.001335	D	0.99843	0.9928	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96747	0.9551	10	0.87932	D	0	.	18.2192	0.89896	0.0:1.0:0.0:0.0	.	1149;1149	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	E	1149	ENSP00000359603:G1149E;ENSP00000392531:G1149E	ENSP00000359603:G1149E	G	-	2	0	COL24A1	86085952	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.974000	0.70465	2.602000	0.87976	0.585000	0.79938	GGA	COL24A1	-	pfam_Collagen		0.468	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86313364	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T
COL25A1	84570	genome.wustl.edu	37	4	109783676	109783676	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:109783676C>T	ENST00000399132.1	-	22	1708	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	COL25A1_ENST00000399127.1_Intron|COL25A1_ENST00000399126.1_Missense_Mutation_p.R393K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTGGGCCTCTAGTTCCTGA	0.373																																																	0													254.0	237.0	242.0					4																	109783676		1816	4088	5904	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1178G>A	4.37:g.109783676C>T	ENSP00000382083:p.Arg393Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Collagen	p.R393K	ENST00000399132.1	37	c.1178	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553530	0.65425	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399126;ENST00000443653	D;D	0.93189	-3.18;-3.18	5.62	5.62	0.85841	.	0.067052	0.64402	D	0.000018	D	0.91422	0.7293	N	0.02973	-0.45	0.39803	D	0.972596	D;D	0.57257	0.959;0.979	D;D	0.74023	0.937;0.982	D	0.91569	0.5270	9	.	.	.	-18.4858	19.6626	0.95878	0.0:1.0:0.0:0.0	.	393;393	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	K	393;395;374;393;323	ENSP00000382083:R393K;ENSP00000382077:R393K	.	R	-	2	0	COL25A1	110003125	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.643000	0.54374	2.635000	0.89317	0.650000	0.86243	AGA	COL25A1	-	pfam_Collagen		0.373	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	C	NM_032518		109783676	-1	no_errors	ENST00000399132	ensembl	human	known	70_37	missense	SNP	1.000	T
COL2A1	1280	genome.wustl.edu	37	12	48369200	48369200	+	Silent	SNP	G	G	C	rs139114389	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:48369200G>C	ENST00000380518.3	-	51	3950	c.3786C>G	c.(3784-3786)ctC>ctG	p.L1262L	COL2A1_ENST00000337299.6_Silent_p.L1193L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1262	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTGGTTGTTGAGGGACTTGA	0.637																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	89.0	80.0	83.0		3786,3579	2.5	1.0	12	dbSNP_134	83	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous,coding-synonymous	COL2A1	NM_001844.4,NM_033150.2	,	0,15,6488	CC,CG,GG		0.1628,0.0227,0.1153	,	1262/1488,1193/1419	48369200	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3786C>G	12.37:g.48369200G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1262	ENST00000380518.3	37	c.3786	CCDS41778.1	12																																																																																			COL2A1	-	smart_Fib_collagen_C		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	G	NM_001844		48369200	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	silent	SNP	1.000	C
COL3A1	1281	genome.wustl.edu	37	2	189862095	189862095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:189862095C>T	ENST00000304636.3	+	26	2019	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q617*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	617	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AACTGGACCTCAGGGACCCCC	0.423																																																	0													77.0	81.0	80.0					2																	189862095		2203	4300	6503	SO:0001587	stop_gained	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1849C>T	2.37:g.189862095C>T	ENSP00000304408:p.Gln617*	Somatic		WXS	Illumina HiSeq	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q617*	ENST00000304636.3	37	c.1849	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.067971	0.98040	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	6.03	6.03	0.97812	.	0.149363	0.30850	N	0.008755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.4456	0.87577	0.0:0.8761:0.1239:0.0	.	.	.	.	X	617	.	ENSP00000304408:Q617X	Q	+	1	0	COL3A1	189570340	0.001000	0.12720	1.000000	0.80357	0.882000	0.50991	0.723000	0.25939	2.868000	0.98415	0.555000	0.69702	CAG	COL3A1	-	NULL		0.423	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	C	NM_000090		189862095	+1	no_errors	ENST00000304636	ensembl	human	known	70_37	nonsense	SNP	0.225	T
COL4A1	1282	genome.wustl.edu	37	13	110859046	110859046	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:110859046C>T	ENST00000375820.4	-	15	945	c.824G>A	c.(823-825)gGa>gAa	p.G275E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G275E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	275	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTTTCTCTCCGACCCCTGG	0.368																																																	0													87.0	95.0	92.0					13																	110859046		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.824G>A	13.37:g.110859046C>T	ENSP00000364979:p.Gly275Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G275E	ENST00000375820.4	37	c.824	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421254	0.25639	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	5.42	5.42	0.78866	.	0.068897	0.56097	D	0.000023	D	0.99111	0.9694	M	0.90705	3.14	0.58432	D	0.999996	P;P	0.48998	0.835;0.918	B;P	0.49192	0.318;0.602	D	0.99050	1.0827	10	0.46703	T	0.11	.	14.318	0.66465	0.0:0.8504:0.1496:0.0	.	275;275	F5H5K0;P02462	.;CO4A1_HUMAN	E	264;275;275;275	ENSP00000364979:G275E;ENSP00000443348:G275E	ENSP00000364973:G264E	G	-	2	0	COL4A1	109657047	0.990000	0.36364	0.967000	0.41034	0.438000	0.31896	5.339000	0.65953	2.542000	0.85734	0.573000	0.79308	GGA	COL4A1	-	pfam_Collagen		0.368	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	C			110859046	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	missense	SNP	0.816	T
COL4A1	1282	genome.wustl.edu	37	13	110859214	110859214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:110859214G>A	ENST00000375820.4	-	14	926	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q269*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	269	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTACTGACCTGAAATCCAGGT	0.343																																																	0													65.0	67.0	67.0					13																	110859214		2203	4300	6503	SO:0001587	stop_gained	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.805C>T	13.37:g.110859214G>A	ENSP00000364979:p.Gln269*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q269*	ENST00000375820.4	37	c.805	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635278	0.67130	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	.	.	.	5.21	5.21	0.72293	.	0.534895	0.18756	N	0.132031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	15.4999	0.75691	0.0:0.0:1.0:0.0	.	.	.	.	X	258;269;269;269	.	ENSP00000364973:Q258X	Q	-	1	0	COL4A1	109657215	0.996000	0.38824	0.799000	0.32177	0.164000	0.22412	3.006000	0.49529	2.434000	0.82447	0.573000	0.79308	CAG	COL4A1	-	NULL		0.343	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110859214	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	nonsense	SNP	0.076	A
COL7A1	1294	genome.wustl.edu	37	3	48602852	48602852	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48602852C>G	ENST00000328333.8	-	115	8625	c.8518G>C	c.(8518-8520)Gag>Cag	p.E2840Q	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.E2808Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2840	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTCCTCCTCTGCATGAGAG	0.632																																																	0													27.0	29.0	29.0					3																	48602852		2203	4299	6502	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8518G>C	3.37:g.48602852C>G	ENSP00000332371:p.Glu2840Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E2840Q	ENST00000328333.8	37	c.8518	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341904	0.24339	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85556	-1.99;-2.0	4.5	4.5	0.54988	.	0.000000	0.44285	D	0.000468	T	0.77631	0.4159	L	0.27053	0.805	0.32529	N	0.535227	P	0.38395	0.629	B	0.39771	0.309	T	0.82220	-0.0565	10	0.40728	T	0.16	.	12.5829	0.56399	0.0:1.0:0.0:0.0	.	2840	Q02388	CO7A1_HUMAN	Q	2840;2808	ENSP00000332371:E2840Q;ENSP00000412569:E2808Q	ENSP00000332371:E2840Q	E	-	1	0	COL7A1	48577856	0.026000	0.19158	0.881000	0.34555	0.473000	0.32948	1.139000	0.31504	2.357000	0.79964	0.467000	0.42956	GAG	COL7A1	-	NULL		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	C	NM_000094		48602852	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.912	G
COL9A3	1299	genome.wustl.edu	37	20	61460830	61460830	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:61460830C>T	ENST00000343916.3	+	20	1035	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	344	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GAGCGGGGTCCAAAGGCGAGA	0.697																																																	0													35.0	43.0	40.0					20																	61460830		2199	4299	6498	SO:0001819	synonymous_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1032C>T	20.37:g.61460830C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.S344	ENST00000343916.3	37	c.1032	CCDS13505.1	20																																																																																			COL9A3	-	NULL		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61460830	+1	no_errors	ENST00000343916	ensembl	human	known	70_37	silent	SNP	1.000	T
CPN2	1370	genome.wustl.edu	37	3	194062052	194062052	+	Missense_Mutation	SNP	G	G	C	rs369348669		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:194062052G>C	ENST00000323830.3	-	2	1469	c.1380C>G	c.(1378-1380)gaC>gaG	p.D460E	CPN2_ENST00000429275.1_Missense_Mutation_p.D460E	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	460					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657																																																	0													65.0	68.0	67.0					3																	194062052		2203	4300	6503	SO:0001583	missense	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1380C>G	3.37:g.194062052G>C	ENSP00000319464:p.Asp460Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D460E	ENST00000323830.3	37	c.1380	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227018	0.01518	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.51325	0.71;0.71	5.0	-8.44	0.00950	.	0.474665	0.15651	N	0.251396	T	0.14830	0.0358	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34650	-0.9820	10	0.02654	T	1	.	9.9226	0.41472	0.614:0.2448:0.1412:0.0	.	460	P22792	CPN2_HUMAN	E	460	ENSP00000319464:D460E;ENSP00000402232:D460E	ENSP00000319464:D460E	D	-	3	2	CPN2	195543747	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.316000	0.00515	-1.499000	0.01821	-1.608000	0.00805	GAC	CPN2	-	NULL		0.657	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	G	NM_001080513		194062052	-1	no_errors	ENST00000323830	ensembl	human	known	70_37	missense	SNP	0.000	C
CPVL	54504	genome.wustl.edu	37	7	29126135	29126135	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:29126135C>T	ENST00000409850.1	-	11	1220	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000265394.5_Missense_Mutation_p.E192K|CPVL_ENST00000396276.3_Missense_Mutation_p.E192K			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	192						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTTTATATTCAGGAAATATC	0.343																																																	0													71.0	77.0	75.0					7																	29126135		2203	4298	6501	SO:0001583	missense	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.574G>A	7.37:g.29126135C>T	ENSP00000387164:p.Glu192Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.E192K	ENST00000409850.1	37	c.574	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119314	0.37436	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.8	5.8	0.92144	.	0.045148	0.85682	D	0.000000	D	0.88819	0.6540	M	0.80332	2.49	0.58432	D	0.999996	P	0.35192	0.489	B	0.38755	0.281	D	0.88028	0.2773	10	0.45353	T	0.12	-0.0058	15.5495	0.76137	0.1386:0.8614:0.0:0.0	.	192	Q9H3G5	CPVL_HUMAN	K	192;192;192;76;122;76;122	ENSP00000265394:E192K;ENSP00000379572:E192K;ENSP00000387164:E192K;ENSP00000409036:E122K;ENSP00000417015:E76K;ENSP00000395690:E122K	ENSP00000265394:E192K	E	-	1	0	CPVL	29092660	1.000000	0.71417	0.994000	0.49952	0.028000	0.11728	4.838000	0.62803	2.748000	0.94277	0.655000	0.94253	GAA	CPVL	-	pfam_Peptidase_S10,prints_Peptidase_S10		0.343	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	C	NM_019029		29126135	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	missense	SNP	1.000	T
CPZ	8532	genome.wustl.edu	37	4	8603131	8603131	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:8603131G>A	ENST00000360986.4	+	3	577	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.A124T|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	135	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCCTTCGACGCCATTGACAT	0.672																																																	0													27.0	30.0	29.0					4																	8603131		2200	4293	6493	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.403G>A	4.37:g.8603131G>A	ENSP00000354255:p.Ala135Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.A135T	ENST00000360986.4	37	c.403	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379017	0.82682	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.75260	-0.92;-0.92	3.41	3.41	0.39046	Frizzled domain (5);	0.138682	0.46758	D	0.000269	T	0.81206	0.4774	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65773	0.924;0.938	D	0.84119	0.0405	10	0.87932	D	0	-29.003	14.9966	0.71436	0.0:0.0:1.0:0.0	.	124;135	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	135;124	ENSP00000354255:A135T;ENSP00000315074:A124T	ENSP00000315074:A124T	A	+	1	0	CPZ	8654031	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	3.590000	0.53979	1.714000	0.51371	0.561000	0.74099	GCC	CPZ	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.672	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	G	NM_003652		8603131	+1	no_errors	ENST00000360986	ensembl	human	known	70_37	missense	SNP	1.000	A
CRAMP1L	57585	genome.wustl.edu	37	16	1676140	1676140	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:1676140G>A	ENST00000397412.3	+	3	612	c.513G>A	c.(511-513)aaG>aaA	p.K171K	CRAMP1L_ENST00000293925.5_Silent_p.K171K|CRAMP1L_ENST00000436138.3_Silent_p.K168K|LA16c-395F10.1_ENST00000415176.1_RNA			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	171	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGAGGACAAGAACACCTTCT	0.642																																																	0													60.0	65.0	63.0					16																	1676140		692	1591	2283	SO:0001819	synonymous_variant	57585			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.513G>A	16.37:g.1676140G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.K171	ENST00000397412.3	37	c.513	CCDS10440.2	16																																																																																			CRAMP1L	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.642	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	G			1676140	+1	no_errors	ENST00000293925	ensembl	human	known	70_37	silent	SNP	1.000	A
CRX	1406	genome.wustl.edu	37	19	48343195	48343195	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:48343195C>G	ENST00000221996.7	+	4	1077	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.Q291E	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	291					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACAAGGATCAGAGTGCCTG	0.542																																					Pancreas(57;461 1196 22201 40716 47188)												0													78.0	80.0	80.0					19																	48343195		2181	4226	6407	SO:0001583	missense	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.871C>G	19.37:g.48343195C>G	ENSP00000221996:p.Gln291Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q291E	ENST00000221996.7	37	c.871	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115891	0.56505	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.94793	-3.52;-3.52	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.95831	0.8643	M	0.64404	1.975	0.50632	D	0.999883	P	0.52842	0.956	P	0.62184	0.899	D	0.96070	0.9045	10	0.72032	D	0.01	-7.9092	13.3627	0.60665	0.0:1.0:0.0:0.0	.	291	O43186	CRX_HUMAN	E	291	ENSP00000221996:Q291E;ENSP00000445565:Q291E	ENSP00000221996:Q291E	Q	+	1	0	CRX	53035007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.060000	0.76692	1.988000	0.58038	0.313000	0.20887	CAG	CRX	-	NULL		0.542	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	C	NM_000554		48343195	+1	no_errors	ENST00000221996	ensembl	human	known	70_37	missense	SNP	1.000	G
CRY2	1408	genome.wustl.edu	37	11	45869177	45869177	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:45869177G>A	ENST00000443527.2	+	1	221	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	46	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGCCGTGCGCGGGGCGCGCTG	0.716																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													9.0	10.0	10.0					11																	45869177		2161	4232	6393	SO:0001583	missense	1408			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.199G>A	11.37:g.45869177G>A	ENSP00000406751:p.Gly67Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.G67R	ENST00000443527.2	37	c.199	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854903	0.91355	.	.	ENSG00000121671	ENST00000443527	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.54863	1.705	0.58432	D	0.999999	P	0.44044	0.825	B	0.34093	0.175	T	0.55412	-0.8145	9	0.41790	T	0.15	-34.1552	16.9381	0.86208	0.0:0.0:1.0:0.0	.	67	B4DZD6	.	R	67	.	ENSP00000406751:G67R	G	+	1	0	CRY2	45825753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.062000	0.57492	2.813000	0.96785	0.561000	0.74099	GGG	CRY2	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N		0.716	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	G	NM_021117		45869177	+1	no_errors	ENST00000443527	ensembl	human	known	70_37	missense	SNP	1.000	A
CRYAA	1409	genome.wustl.edu	37	21	44590668	44590668	+	Silent	SNP	G	G	A	rs146497353		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:44590668G>A	ENST00000291554.2	+	2	323	c.231G>A	c.(229-231)gtG>gtA	p.V77V	CRYAA_ENST00000398133.1_Silent_p.V57V|CRYAA_ENST00000398132.1_Silent_p.V40V|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	77					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCTCGATGTGAAGCACTTCT	0.597																																																	0								G		0,4406		0,0,2203	150.0	108.0	122.0		231	2.8	1.0	21	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CRYAA	NM_000394.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		77/174	44590668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.231G>A	21.37:g.44590668G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X53	Silent	SNP	pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.V77	ENST00000291554.2	37	c.231	CCDS13695.1	21																																																																																			CRYAA	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP		0.597	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1	G			44590668	+1	no_errors	ENST00000291554	ensembl	human	known	70_37	silent	SNP	1.000	A
CSE1L	1434	genome.wustl.edu	37	20	47689161	47689161	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:47689161G>A	ENST00000262982.2	+	10	1116	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CSE1L_ENST00000542325.1_Silent_p.K114K|CSE1L_ENST00000396192.3_Silent_p.K275K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	331					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTCATTATAAGAATCTATTTG	0.323																																																	0													91.0	90.0	90.0					20																	47689161		2203	4299	6502	SO:0001819	synonymous_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.993G>A	20.37:g.47689161G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K331	ENST00000262982.2	37	c.993	CCDS13412.1	20																																																																																			CSE1L	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.323	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47689161	+1	no_errors	ENST00000262982	ensembl	human	known	70_37	silent	SNP	1.000	A
CSE1L	1434	genome.wustl.edu	37	20	47712752	47712752	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:47712752G>A	ENST00000262982.2	+	25	2949				CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGTTTCTGGAGAATTTTTGGA	0.408																																																	0																																										SO:0001627	intron_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2827-134G>A	20.37:g.47712752G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	RNA	SNP	-	NULL	ENST00000262982.2	37	NULL	CCDS13412.1	20																																																																																			CSE1L	-	-		0.408	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47712752	+1	no_errors	ENST00000469700	ensembl	human	known	70_37	rna	SNP	0.001	A
CSMD1	64478	genome.wustl.edu	37	8	3351249	3351249	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:3351249C>T	ENST00000520002.1	-	12	1903		c.e12-1		CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTGATGACCTAAATACAAG	0.433																																																	0													64.0	67.0	66.0					8																	3351249		2171	4293	6464	SO:0001630	splice_region_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1348-1G>A	8.37:g.3351249C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	-	e12-1	ENST00000520002.1	37	c.1348-1		8	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760086	0.69763	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1305	0.89599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3338657	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	7.285000	0.78660	2.552000	0.86080	0.557000	0.71058	.	CSMD1	-	-		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225	Intron	3351249	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19316060	19316060	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:19316060C>G	ENST00000454498.2	-	5	1741	c.728G>C	c.(727-729)cGa>cCa	p.R243P	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R243P|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	243					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCCGAATGGTCGAAATAAGAT	0.443																																																	0													313.0	287.0	296.0					8																	19316060		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.728G>C	8.37:g.19316060C>G	ENSP00000411816:p.Arg243Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R243P	ENST00000454498.2	37	c.728	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761689	0.89932	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.61	5.61	0.85477	.	0.055184	0.64402	D	0.000001	T	0.60907	0.2305	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67264	-0.5714	10	0.66056	D	0.02	-12.9217	18.5627	0.91107	0.0:1.0:0.0:0.0	.	243	Q8TDX6	CGAT1_HUMAN	P	243	ENSP00000411816:R243P;ENSP00000330805:R243P;ENSP00000310891:R243P;ENSP00000429809:R243P;ENSP00000442155:R243P	ENSP00000310891:R243P	R	-	2	0	CSGALNACT1	19360340	1.000000	0.71417	0.981000	0.43875	0.884000	0.51177	7.414000	0.80117	2.813000	0.96785	0.655000	0.94253	CGA	CSGALNACT1	-	pfam_Chond_GalNAc		0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	C	NM_018371		19316060	-1	no_errors	ENST00000311540	ensembl	human	known	70_37	missense	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113649101	113649101	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:113649101G>A	ENST00000297405.5	-	22	3904	c.3660C>T	c.(3658-3660)atC>atT	p.I1220I	CSMD3_ENST00000455883.2_Silent_p.I1116I|CSMD3_ENST00000343508.3_Silent_p.I1180I|CSMD3_ENST00000352409.3_Silent_p.I1220I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1220	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGACAGATGATCTCTGATG	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													231.0	161.0	185.0					8																	113649101		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3660C>T	8.37:g.113649101G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.I1220	ENST00000297405.5	37	c.3660	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.498	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113649101	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113668533	113668533	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:113668533G>A	ENST00000297405.5	-	18	3098	c.2854C>T	c.(2854-2856)Cat>Tat	p.H952Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H848Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H912Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H952Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	952	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCCCATCATGAACTTCCAGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													68.0	74.0	72.0					8																	113668533		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2854C>T	8.37:g.113668533G>A	ENSP00000297405:p.His952Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H952Y	ENST00000297405.5	37	c.2854	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131272	0.21041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.12	5.12	0.69794	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38268	0.1034	N	0.00510	-1.415	0.44728	D	0.997727	D;D;D	0.71674	0.997;0.998;0.975	D;D;P	0.85130	0.995;0.997;0.836	T	0.50783	-0.8787	10	0.02654	T	1	.	18.9148	0.92501	0.0:0.0:1.0:0.0	.	848;952;912	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	912;952;292;848;952	ENSP00000345799:H912Y;ENSP00000297405:H952Y;ENSP00000341558:H292Y;ENSP00000412263:H848Y;ENSP00000343124:H952Y	ENSP00000297405:H952Y	H	-	1	0	CSMD3	113737709	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.924000	0.87555	2.537000	0.85549	0.585000	0.79938	CAT	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113668533	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A
CTPS2	56474	genome.wustl.edu	37	X	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438																																																	0													146.0	123.0	131.0					X																	16720991		2203	4300	6503	SO:0001587	stop_gained	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.35C>A	X.37:g.16720991G>T	ENSP00000401264:p.Ser12*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonsense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.S12*	ENST00000443824.1	37	c.35	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.259937	0.97421	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3459	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000352222:S12X	S	-	2	0	CTPS2	16630912	1.000000	0.71417	0.681000	0.30009	0.020000	0.10135	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	TCA	CTPS2	-	pfam_CTP_synthase_N,tigrfam_CTP_synthase		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	G	NM_019857		16720991	-1	no_errors	ENST00000359276	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88779087	88779087	+	IGR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88779087G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Missense_Mutation_p.E171K|CTU2_ENST00000453996.2_Missense_Mutation_p.E171K|CTU2_ENST00000567949.1_Missense_Mutation_p.E242K|CTU2_ENST00000378384.3_Missense_Mutation_p.E84K	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGTGGGATCCGAGGGGGCCTA	0.692																																																	0													25.0	31.0	29.0					16																	88779087		2198	4299	6497	SO:0001628	intergenic_variant	348180			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779087G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.E242K	ENST00000301015.9	37	c.724	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625863	0.28889	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.17854	2.25;2.51;2.51	4.6	1.34	0.21922	.	0.746584	0.12592	N	0.455495	T	0.13243	0.0321	L	0.60455	1.87	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.018	B;B;B	0.12156	0.007;0.006;0.002	T	0.43972	-0.9358	10	0.06494	T	0.89	.	6.3062	0.21139	0.1665:0.2879:0.5455:0.0	.	84;171;171	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	K	84;171;171	ENSP00000367635:E84K;ENSP00000308617:E171K;ENSP00000388320:E171K	ENSP00000308617:E171K	E	+	1	0	CTU2	87306588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.058000	0.14301	0.092000	0.17331	0.650000	0.86243	GAG	CTU2	-	NULL		0.692	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	G	NM_014745		88779087	+1	no_errors	ENST00000567949	ensembl	human	known	70_37	missense	SNP	0.000	A
CUL5	8065	genome.wustl.edu	37	11	107968424	107968424	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:107968424C>T	ENST00000393094.2	+	17	2583	c.1967C>T	c.(1966-1968)tCa>tTa	p.S656L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	656					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAAGTCAACTCACCCAAAGAC	0.358																																																	0													124.0	118.0	120.0					11																	107968424		2201	4298	6499	SO:0001583	missense	8065			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1967C>T	11.37:g.107968424C>T	ENSP00000376808:p.Ser656Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S656L	ENST00000393094.2	37	c.1967	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.376437	0.95945	.	.	ENSG00000166266	ENST00000393094	T	0.74315	-0.83	5.63	5.63	0.86233	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (1);	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.73598	2.24	0.80722	D	1	D	0.52996	0.957	P	0.49085	0.6	T	0.82707	-0.0324	10	0.56958	D	0.05	-10.6017	20.054	0.97641	0.0:1.0:0.0:0.0	.	656	Q93034	CUL5_HUMAN	L	656	ENSP00000376808:S656L	ENSP00000376808:S656L	S	+	2	0	CUL5	107473634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.808000	0.96608	0.655000	0.94253	TCA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology		0.358	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	C			107968424	+1	no_errors	ENST00000393094	ensembl	human	known	70_37	missense	SNP	1.000	T
PRR32	100130613	genome.wustl.edu	37	X	125955019	125955019	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:125955019C>T	ENST00000371125.3	+	2	478	c.398C>T	c.(397-399)tCt>tTt	p.S133F		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		133																	TGGGAAGTCTCTGGCGGCCCT	0.537																																																	0													37.0	32.0	33.0					X																	125955019		692	1591	2283	SO:0001583	missense	100130613																														ENST00000371125.3:c.398C>T	X.37:g.125955019C>T	ENSP00000360166:p.Ser133Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S133F	ENST00000371125.3	37	c.398	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114420	0.37339	.	.	ENSG00000183631	ENST00000371125	T	0.39592	1.07	3.91	3.05	0.35203	.	0.000000	0.33364	N	0.004990	T	0.28001	0.0690	L	0.34521	1.04	0.09310	N	0.999999	P	0.44816	0.844	B	0.39152	0.292	T	0.18587	-1.0332	10	0.87932	D	0	-5.8115	6.4054	0.21662	0.0:0.8651:0.0:0.1349	.	133	B1ATL7	CX064_HUMAN	F	133	ENSP00000360166:S133F	ENSP00000360166:S133F	S	+	2	0	CXorf64	125782700	0.995000	0.38212	0.142000	0.22268	0.008000	0.06430	1.254000	0.32897	1.007000	0.39238	0.594000	0.82650	TCT	CXorf64	-	NULL		0.537	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1	C			125955019	+1	no_errors	ENST00000371125	ensembl	human	known	70_37	missense	SNP	0.126	T
CYP2A7	1549	genome.wustl.edu	37	19	41381616	41381616	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41381616C>A	ENST00000301146.4	-	9	2008	c.1467G>T	c.(1465-1467)atG>atT	p.M489I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.M438I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	489						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCAGGAAGCTCATGGTGTAGT	0.632																																																	0													36.0	46.0	43.0					19																	41381616		2201	4297	6498	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1467G>T	19.37:g.41381616C>A	ENSP00000301146:p.Met489Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.M489I	ENST00000301146.4	37	c.1467	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	C	7.380	0.628609	0.14257	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.10192	5.25;2.9	2.22	-0.689	0.11313	.	0.459913	0.22891	N	0.054390	T	0.04227	0.0117	N	0.05441	-0.05	0.23845	N	0.996686	B;B;B	0.18610	0.029;0.016;0.015	B;B;B	0.19148	0.021;0.017;0.024	T	0.38866	-0.9641	10	0.29301	T	0.29	.	5.793	0.18371	0.186:0.2964:0.5176:0.0	.	489;438;489	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	I	489;438	ENSP00000301146:M489I;ENSP00000291764:M438I	ENSP00000291764:M438I	M	-	3	0	CYP2A7	46073456	0.001000	0.12720	0.062000	0.19696	0.093000	0.18481	-0.374000	0.07484	0.219000	0.20840	0.195000	0.17529	ATG	CYP2A7	-	superfamily_Cyt_P450		0.632	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	C	NM_030589		41381616	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	0.873	A
CYP2A7	1549	genome.wustl.edu	37	19	41386426	41386426	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41386426C>T	ENST00000301146.4	-	3	992	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.E100K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	151						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGACTCCTCCTGGATGCGC	0.652																																																	0													49.0	44.0	46.0					19																	41386426		2203	4300	6503	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.451G>A	19.37:g.41386426C>T	ENSP00000301146:p.Glu151Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13121	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like	p.E151K	ENST00000301146.4	37	c.451	CCDS12569.1	19	.	.	.	.	.	.	.	.	.	.	c	20.8	4.042491	0.75732	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.70631	-0.5;-0.5	2.22	2.22	0.28083	.	0.000000	0.85682	U	0.000000	T	0.78515	0.4295	M	0.62723	1.935	0.36079	D	0.842675	P;D;D	0.71674	0.92;0.957;0.998	P;P;D	0.66497	0.707;0.868;0.944	D	0.83552	0.0102	10	0.62326	D	0.03	.	11.4692	0.50257	0.0:1.0:0.0:0.0	.	151;100;151	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	K	151;100	ENSP00000301146:E151K;ENSP00000291764:E100K	ENSP00000291764:E100K	E	-	1	0	CYP2A7	46078266	1.000000	0.71417	0.115000	0.21578	0.019000	0.09904	3.956000	0.56722	1.220000	0.43490	0.195000	0.17529	GAG	CYP2A7	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.652	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	C	NM_030589		41386426	-1	no_errors	ENST00000301146	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP2A7	1549	genome.wustl.edu	37	19	41386523	41386523	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:41386523G>A	ENST00000301146.4	-	3	895	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.F67F	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	118						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCGTTGCTGAACGCCACGC	0.697																																																	0													16.0	15.0	15.0					19																	41386523		2160	4196	6356	SO:0001819	synonymous_variant	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.354C>T	19.37:g.41386523G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13121	Missense_Mutation	SNP	superfamily_Cyt_P450	p.S64L	ENST00000301146.4	37	c.191	CCDS12569.1	19																																																																																			CYP2A7	-	NULL		0.697	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A7	HGNC	protein_coding	OTTHUMT00000463269.2	G	NM_030589		41386523	-1	no_errors	ENST00000594332	ensembl	human	known	70_37	missense	SNP	0.809	A
CYP2C18	1562	genome.wustl.edu	37	10	96443712	96443712	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:96443712G>A	ENST00000285979.6	+	1	335	c.136G>A	c.(136-138)Gat>Aat	p.D46N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D46N	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	46					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCTGCAGTTAGATGTTAAGGA	0.428																																																	0													68.0	63.0	64.0					10																	96443712		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.136G>A	10.37:g.96443712G>A	ENSP00000285979:p.Asp46Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.D46N	ENST00000285979.6	37	c.136	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296295	0.23650	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.68479	-0.33;-0.33	4.17	1.19	0.21007	.	0.417764	0.25490	N	0.030319	T	0.42314	0.1197	N	0.25060	0.705	0.09310	N	1	B;B	0.20988	0.05;0.006	B;B	0.24269	0.052;0.011	T	0.17319	-1.0373	10	0.10636	T	0.68	.	3.5563	0.07865	0.2964:0.0:0.5286:0.175	.	46;46	Q4VAT5;P33260	.;CP2CI_HUMAN	N	46	ENSP00000341293:D46N;ENSP00000285979:D46N	ENSP00000285979:D46N	D	+	1	0	CYP2C18	96433702	0.050000	0.20438	0.033000	0.17914	0.855000	0.48748	0.274000	0.18680	0.013000	0.14918	0.455000	0.32223	GAT	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.428	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96443712	+1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.058	A
CYP4F3	4051	genome.wustl.edu	37	19	15770127	15770127	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:15770127C>T	ENST00000221307.8	+	13	1542	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R499C|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R499C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R499C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	499					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CACCGAGCCCCGCAGGAAGCC	0.662																																																	0													16.0	17.0	17.0					19																	15770127		2196	4286	6482	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1495C>T	19.37:g.15770127C>T	ENSP00000221307:p.Arg499Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R499C	ENST00000221307.8	37	c.1495	CCDS12332.1	19	.	.	.	.	.	.	.	.	.	.	.	8.441	0.850759	0.17034	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.68903	-0.36	3.48	-0.236	0.13067	.	0.190523	0.33092	U	0.005298	T	0.67059	0.2853	M	0.88241	2.94	0.51233	D	0.999919	B;B;B	0.30211	0.157;0.174;0.273	B;B;B	0.34931	0.192;0.12;0.12	T	0.61544	-0.7041	10	0.66056	D	0.02	.	5.1278	0.14894	0.3567:0.5361:0.0:0.1072	.	209;499;499	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	C	426;499	ENSP00000221307:R499C	ENSP00000221307:R499C	R	+	1	0	CYP4F3	15631127	0.017000	0.18338	0.003000	0.11579	0.368000	0.29767	0.002000	0.13061	-0.146000	0.11274	0.305000	0.20034	CGC	CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.662	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	C	NM_000896		15770127	+1	no_errors	ENST00000221307	ensembl	human	known	70_37	missense	SNP	0.422	T
CYTH1	9267	genome.wustl.edu	37	17	76676417	76676417	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:76676417C>G	ENST00000446868.3	-	13	1043	c.973G>C	c.(973-975)Gag>Cag	p.E325Q	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Missense_Mutation_p.E266Q|CYTH1_ENST00000591455.1_Missense_Mutation_p.E324Q|CYTH1_ENST00000589297.1_Missense_Mutation_p.E266Q|CYTH1_ENST00000361101.4_Missense_Mutation_p.E325Q|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ATATAAAGCTCAAAGCAGTTC	0.488																																																	0													60.0	56.0	58.0					17																	76676417		2203	4300	6503	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.973G>C	17.37:g.76676417C>G	ENSP00000389095:p.Glu325Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E325Q	ENST00000446868.3	37	c.973		17	.	.	.	.	.	.	.	.	.	.	C	34	5.367199	0.95900	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.75589	-0.95;-0.95	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83578	0.0116	10	0.37606	T	0.19	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	324	Q15438-2	.	Q	325;325;266;266;324;162	ENSP00000389095:E325Q;ENSP00000354398:E325Q	ENSP00000262763:E324Q	E	-	1	0	CYTH1	74188012	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.659000	0.83766	2.805000	0.96524	0.650000	0.86243	GAG	CYTH1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.488	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	C	NM_004762		76676417	-1	no_errors	ENST00000361101	ensembl	human	known	70_37	missense	SNP	1.000	G
DBNL	28988	genome.wustl.edu	37	7	44097863	44097863	+	Missense_Mutation	SNP	G	G	A	rs541074419		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:44097863G>A	ENST00000448521.1	+	7	786	c.688G>A	c.(688-690)Gag>Aag	p.E230K	DBNL_ENST00000494774.1_Missense_Mutation_p.E230K|DBNL_ENST00000440166.1_Missense_Mutation_p.E127K|DBNL_ENST00000490734.2_Missense_Mutation_p.E135K|DBNL_ENST00000452943.1_Missense_Mutation_p.E205K|DBNL_ENST00000456905.1_Missense_Mutation_p.E181K|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.E230K	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	230					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GCAGGGTGGCGAGGCCAGCCC	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		17458	0.0		0.0	False		,,,				2504	0.001				NSCLC(68;573 1327 18604 34760 37992)												0													10.0	13.0	12.0					7																	44097863		2186	4280	6466	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.688G>A	7.37:g.44097863G>A	ENSP00000411701:p.Glu230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain	p.E230K	ENST00000448521.1	37	c.688	CCDS34623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.831121|2.831121	0.50845|0.50845	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	T;T;T;T;T;T;T|.	0.33216|.	1.92;2.2;2.21;2.2;1.42;1.86;2.14|.	4.51|4.51	0.841|0.841	0.18918|0.18918	.|.	53.483800|.	0.00166|.	U|.	0.000000|.	T|T	0.25121|0.25121	0.0610|0.0610	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B;B;B;B;B;B;B;B|.	0.43750|.	0.816;0.003;0.027;0.011;0.177;0.027;0.005;0.001;0.001|.	B;B;B;B;B;B;B;B;B|.	0.28011|.	0.085;0.002;0.004;0.002;0.019;0.003;0.006;0.001;0.003|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|5	0.37606|.	T|.	0.19|.	9.0813|9.0813	5.7406|5.7406	0.18092|0.18092	0.1633:0.0:0.6166:0.2201|0.1633:0.0:0.6166:0.2201	.|.	127;178;160;181;135;205;230;230;230|.	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.;.;.;.;.;.;.;DBNL_HUMAN;.|.	K|Q	230;181;127;205;230;230;135;160|158	ENSP00000411701:E230K;ENSP00000416421:E181K;ENSP00000415173:E127K;ENSP00000405343:E205K;ENSP00000417653:E230K;ENSP00000419992:E230K;ENSP00000417749:E135K|.	ENSP00000415173:E127K|.	E|R	+|+	1|2	0|0	DBNL|DBNL	44064388|44064388	0.216000|0.216000	0.23585|0.23585	0.000000|0.000000	0.03702|0.03702	0.789000|0.789000	0.44602|0.44602	0.610000|0.610000	0.24253|0.24253	-0.077000|-0.077000	0.12752|0.12752	0.306000|0.306000	0.20318|0.20318	GAG|CGA	DBNL	-	NULL		0.716	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	G	NM_014063		44097863	+1	no_errors	ENST00000468694	ensembl	human	known	70_37	missense	SNP	0.001	A
DCHS1	8642	genome.wustl.edu	37	11	6650693	6650693	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:6650693G>A	ENST00000299441.3	-	12	5562	c.5151C>T	c.(5149-5151)atC>atT	p.I1717I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1717	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCAGGTTGATCTCCTCCT	0.493																																																	0													89.0	83.0	85.0					11																	6650693		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5151C>T	11.37:g.6650693G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I1717	ENST00000299441.3	37	c.5151	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6650693	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	0.999	A
DCLRE1B	64858	genome.wustl.edu	37	1	114456243	114456243	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:114456243C>T	ENST00000369563.3	+	0	3475				DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		attcctacctctcatgattac	0.438								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001624	3_prime_UTR_variant	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.*1430C>T	1.37:g.114456243C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9E5	RNA	SNP	-	NULL	ENST00000369563.3	37	NULL	CCDS866.1	1																																																																																			DCLRE1B	-	-		0.438	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	C	NM_022836		114456243	+1	no_errors	ENST00000466480	ensembl	human	known	70_37	rna	SNP	0.017	T
DCST1	149095	genome.wustl.edu	37	1	155007000	155007000	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155007000C>G	ENST00000295542.1	+	3	247	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V	DCST1_ENST00000423025.2_Missense_Mutation_p.L51V|DCST1_ENST00000392480.1_Missense_Mutation_p.L51V|DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Missense_Mutation_p.L51V|DCST2_ENST00000295536.5_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	51						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CACTGCTCTCCTGCTGGGGGC	0.652																																																	0													64.0	76.0	72.0					1																	155007000		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.151C>G	1.37:g.155007000C>G	ENSP00000295542:p.Leu51Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.L51V	ENST00000295542.1	37	c.151	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990242	0.74589	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.32023	1.58;1.52;1.47;1.52	5.18	4.26	0.50523	.	1.402390	0.04878	N	0.447136	T	0.39963	0.1098	M	0.67953	2.075	0.36108	D	0.844594	D;D;D	0.76494	0.983;0.999;0.983	P;D;P	0.65874	0.556;0.939;0.556	T	0.21999	-1.0229	10	0.33940	T	0.23	-13.6262	8.6614	0.34095	0.0:0.8979:0.0:0.1021	.	51;76;51	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	51	ENSP00000295542:L51V;ENSP00000376271:L51V;ENSP00000387369:L51V;ENSP00000357404:L51V	ENSP00000295542:L51V	L	+	1	2	DCST1	153273624	0.990000	0.36364	1.000000	0.80357	0.984000	0.73092	0.037000	0.13840	2.421000	0.82119	0.655000	0.94253	CTG	DCST1	-	NULL		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	C	NM_152494		155007000	+1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	1.000	G
DDIT4L	115265	genome.wustl.edu	37	4	101108882	101108882	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:101108882C>T	ENST00000273990.2	-	3	748	c.534G>A	c.(532-534)aaG>aaA	p.K178K	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	178					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AAAGTTTTTTCTTAACAAGTC	0.383																																																	0													60.0	66.0	64.0					4																	101108882		2203	4300	6503	SO:0001819	synonymous_variant	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.534G>A	4.37:g.101108882C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7C3	Silent	SNP	pfam_RTP801-like	p.K178	ENST00000273990.2	37	c.534	CCDS34036.1	4																																																																																			DDIT4L	-	pfam_RTP801-like		0.383	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	C	NM_145244		101108882	-1	no_errors	ENST00000273990	ensembl	human	known	70_37	silent	SNP	1.000	T
DDOST	1650	genome.wustl.edu	37	1	20987829	20987829	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:20987829G>A	ENST00000375048.3	-	1	171	c.66C>T	c.(64-66)acC>acT	p.T22T	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Silent_p.T22T|DDOST_ENST00000602624.2_Silent_p.T5T|KIF17_ENST00000490034.1_5'Flank	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	22					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGGGCCGCGGTGCTGGGCT	0.662											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	21.0	19.0					1																	20987829		2198	4293	6491	SO:0001819	synonymous_variant	1650			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.66C>T	1.37:g.20987829G>A		Somatic	745	WXS	Illumina HiSeq	Phase_IV	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	pfam_OligosaccharylTrfase_su_Wbp1	p.T22	ENST00000375048.3	37	c.66	CCDS212.1	1																																																																																			DDOST	-	NULL		0.662	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2	G	NM_005216		20987829	-1	no_errors	ENST00000375048	ensembl	human	known	70_37	silent	SNP	0.000	A
DDR2	4921	genome.wustl.edu	37	1	162749934	162749934	+	Silent	SNP	C	C	T	rs143080882		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:162749934C>T	ENST00000367922.3	+	19	2904	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	DDR2_ENST00000367921.3_Silent_p.D822D|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TTTGTCCTGACTCTGTGTATA	0.453																																					NSCLC(161;314 2006 8283 19651 23192)												0													210.0	204.0	206.0					1																	162749934		2203	4300	6503	SO:0001819	synonymous_variant	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2466C>T	1.37:g.162749934C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z730	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D822	ENST00000367922.3	37	c.2466	CCDS1241.1	1																																																																																			DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.453	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	C	NM_006182		162749934	+1	no_errors	ENST00000367921	ensembl	human	known	70_37	silent	SNP	1.000	T
DFNB31	25861	genome.wustl.edu	37	9	117240670	117240670	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:117240670G>C	ENST00000362057.3	-	2	1006				DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000374057.3_Missense_Mutation_p.L334V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGTCAAAAAGAAAAGCAAAG	0.403																																																	0																																										SO:0001627	intron_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.837+162C>G	9.37:g.117240670G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L334V	ENST00000362057.3	37	c.1000	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424713	0.25639	.	.	ENSG00000095397	ENST00000374057	T	0.22134	1.97	3.67	-6.26	0.02033	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35301	-0.9794	8	0.87932	D	0	.	1.7616	0.02993	0.2465:0.3367:0.2928:0.124	.	334	Q9P202-2	.	V	334	ENSP00000363170:L334V	ENSP00000363170:L334V	L	-	1	0	DFNB31	116280491	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.101000	0.10973	-1.368000	0.02149	0.561000	0.74099	CTT	DFNB31	-	NULL		0.403	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117240670	-1	no_errors	ENST00000374057	ensembl	human	known	70_37	missense	SNP	0.000	C
DFNB31	25861	genome.wustl.edu	37	9	117240709	117240709	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:117240709G>C	ENST00000362057.3	-	2	1006				DFNB31_ENST00000265134.6_Intron|DFNB31_ENST00000374057.3_Missense_Mutation_p.Q321E	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTACAGACTTGAGGGAAGACA	0.478																																																	0																																										SO:0001627	intron_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.837+123C>G	9.37:g.117240709G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q321E	ENST00000362057.3	37	c.961	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574376	0.28092	.	.	ENSG00000095397	ENST00000374057	T	0.19105	2.17	3.67	1.8	0.24995	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.24404	-1.0161	8	0.87932	D	0	.	5.7025	0.17891	0.2329:0.0:0.7671:0.0	.	321	Q9P202-2	.	E	321	ENSP00000363170:Q321E	ENSP00000363170:Q321E	Q	-	1	0	DFNB31	116280530	0.001000	0.12720	0.000000	0.03702	0.141000	0.21300	0.293000	0.19029	0.500000	0.27991	0.561000	0.74099	CAA	DFNB31	-	NULL		0.478	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117240709	-1	no_errors	ENST00000374057	ensembl	human	known	70_37	missense	SNP	0.001	C
DHX36	170506	genome.wustl.edu	37	3	154006737	154006737	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:154006737C>T	ENST00000496811.1	-	17	2029	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	DHX36_ENST00000544526.1_Missense_Mutation_p.G636E|DHX36_ENST00000308361.6_Missense_Mutation_p.G650E|DHX36_ENST00000329463.5_Missense_Mutation_p.G636E	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	650					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAAGCAATTCCACCTAGCCT	0.353																																																	0													52.0	51.0	51.0					3																	154006737		2203	4300	6503	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1949G>A	3.37:g.154006737C>T	ENSP00000417078:p.Gly650Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G650E	ENST00000496811.1	37	c.1949	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	7.951	0.744891	0.15710	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73	5.87	5.87	0.94306	.	0.152844	0.64402	D	0.000013	T	0.03053	0.0090	N	0.05306	-0.075	0.45005	D	0.998021	B;B;B	0.18968	0.032;0.006;0.019	B;B;B	0.17433	0.018;0.007;0.008	T	0.42599	-0.9442	10	0.06365	T	0.9	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	636;650;650	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	E	650;650;636;636;564	ENSP00000417078:G650E;ENSP00000309296:G650E;ENSP00000444247:G636E;ENSP00000330113:G636E;ENSP00000419862:G564E	ENSP00000309296:G650E	G	-	2	0	DHX36	155489431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.785000	0.95823	0.655000	0.94253	GGA	DHX36	-	NULL		0.353	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	C	NM_020865		154006737	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	missense	SNP	1.000	T
DGKG	1608	genome.wustl.edu	37	3	186006655	186006655	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:186006655C>T	ENST00000265022.3	-	6	927	c.388G>A	c.(388-390)Gag>Aag	p.E130K	DGKG_ENST00000544847.1_Missense_Mutation_p.E130K|DGKG_ENST00000344484.4_Missense_Mutation_p.E130K|DGKG_ENST00000382164.4_Missense_Mutation_p.E130K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	130					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCTTGCTTCTCAGCCATATTT	0.483																																																	0													125.0	132.0	129.0					3																	186006655		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.388G>A	3.37:g.186006655C>T	ENSP00000265022:p.Glu130Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	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.E130K	ENST00000265022.3	37	c.388	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	9.169	1.020765	0.19433	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.74	-2.38	0.06622	.	2.212010	0.01588	N	0.021415	T	0.17323	0.0416	N	0.02916	-0.46	0.24595	N	0.993802	B;B;B;B	0.11235	0.0;0.001;0.004;0.0	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.08066	-1.0740	10	0.26408	T	0.33	.	2.3154	0.04197	0.116:0.3926:0.1137:0.3778	.	130;130;130;130	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	K	130;130;130;130;133	ENSP00000265022:E130K;ENSP00000339777:E130K;ENSP00000371599:E130K;ENSP00000440507:E130K	ENSP00000265022:E130K	E	-	1	0	DGKG	187489349	0.027000	0.19231	0.009000	0.14445	0.000000	0.00434	0.089000	0.15002	-0.322000	0.08615	-0.997000	0.02515	GAG	DGKG	-	NULL		0.483	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			186006655	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	0.026	T
DLG1	1739	genome.wustl.edu	37	3	197023292	197023292	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197023292C>T	ENST00000419354.1	-	3	362	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000392382.2_Missense_Mutation_p.E26K|DLG1_ENST00000422288.1_Missense_Mutation_p.E26K|DLG1-AS1_ENST00000430666.1_RNA|DLG1_ENST00000346964.2_Missense_Mutation_p.E26K|DLG1-AS1_ENST00000414529.1_RNA|DLG1_ENST00000450955.1_Missense_Mutation_p.E26K|DLG1_ENST00000357674.4_Missense_Mutation_p.E26K|DLG1_ENST00000448528.2_Missense_Mutation_p.E26K|MIR4797_ENST00000577559.1_RNA|DLG1_ENST00000314062.3_Missense_Mutation_p.E26K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	26	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGTCTGTCTTCAGTTTGGCTT	0.378																																																	0													172.0	171.0	171.0					3																	197023292		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.76G>A	3.37:g.197023292C>T	ENSP00000407531:p.Glu26Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E26K	ENST00000419354.1	37	c.76	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578252	0.86645	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000456699;ENST00000392380;ENST00000419553;ENST00000436682;ENST00000412364;ENST00000434148	T;T;T;T;T;T;T;T;T;T;T	0.44482	2.65;2.6;2.57;2.65;2.57;2.65;2.61;2.6;0.92;0.92;0.92	5.09	5.09	0.68999	L27 (2);L27-1 (1);	0.139195	0.45361	D	0.000370	T	0.38081	0.1027	L	0.48362	1.52	0.58432	D	0.999999	B;B;B;P	0.35272	0.449;0.027;0.183;0.493	B;B;B;B	0.32864	0.154;0.037;0.089;0.116	T	0.21759	-1.0236	10	0.40728	T	0.16	.	16.8014	0.85615	0.0:1.0:0.0:0.0	.	26;26;26;26	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	K	26	ENSP00000345731:E26K;ENSP00000350303:E26K;ENSP00000321087:E26K;ENSP00000407531:E26K;ENSP00000413238:E26K;ENSP00000391732:E26K;ENSP00000376187:E26K;ENSP00000411278:E26K;ENSP00000396474:E26K;ENSP00000376185:E26K;ENSP00000414189:E26K	ENSP00000321087:E26K	E	-	1	0	DLG1	198507689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.894000	0.56250	2.741000	0.93983	0.650000	0.86243	GAA	DLG1	-	pfam_L27_1,smart_L27,pirsf_M-assoc_guanylate_kinase,pfscan_L27		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	C	NM_004087		197023292	-1	no_errors	ENST00000346964	ensembl	human	known	70_37	missense	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51748512	51748512	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:51748512G>C	ENST00000251076.5	-	37	8613	c.8326C>G	c.(8326-8328)Caa>Gaa	p.Q2776E	RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q2140E|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2777E|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2776						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTACAGTATTGATGGACTGGG	0.269																																																	0													66.0	72.0	70.0					15																	51748512		2196	4292	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8326C>G	15.37:g.51748512G>C	ENSP00000251076:p.Gln2776Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2777E	ENST00000251076.5	37	c.8329	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838737	0.91117	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01287	5.05;5.05;5.05	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	L	0.36672	1.1	0.58432	D	0.999997	P;P;D;P	0.56287	0.952;0.865;0.975;0.621	P;P;D;P	0.67103	0.718;0.759;0.949;0.525	T	0.45293	-0.9271	10	0.72032	D	0.01	.	19.0588	0.93078	0.0:0.0:1.0:0.0	.	2777;2140;2776;2777	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	E	2776;2777;2140;342	ENSP00000251076:Q2776E;ENSP00000441858:Q2777E;ENSP00000400855:Q2140E	ENSP00000251076:Q2776E	Q	-	1	0	DMXL2	49535804	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.232000	0.95325	2.718000	0.92993	0.655000	0.94253	CAA	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51748512	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH10	196385	genome.wustl.edu	37	12	124413920	124413920	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:124413920C>G	ENST00000409039.3	+	70	12076	c.12051C>G	c.(12049-12051)ttC>ttG	p.F4017L	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4017	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCTGCCTTCAAGCCGCTGG	0.522																																																	0													49.0	50.0	50.0					12																	124413920		2038	4188	6226	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12051C>G	12.37:g.124413920C>G	ENSP00000386770:p.Phe4017Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.F4017L	ENST00000409039.3	37	c.12051	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955563	0.73902	.	.	ENSG00000197653	ENST00000409039	T	0.09817	2.94	5.43	4.54	0.55810	Dynein heavy chain (1);	0.244358	0.41294	D	0.000910	T	0.36026	0.0952	M	0.88310	2.945	0.80722	D	1	D	0.59357	0.985	D	0.65233	0.933	T	0.37150	-0.9718	10	0.72032	D	0.01	.	12.4242	0.55538	0.0:0.8599:0.0:0.1401	.	4017	Q8IVF4	DYH10_HUMAN	L	4017	ENSP00000386770:F4017L	ENSP00000386770:F4017L	F	+	3	2	DNAH10	122979873	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.551000	0.45820	1.444000	0.47605	0.591000	0.81541	TTC	DNAH10	-	pfam_Dynein_heavy_dom		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124413920	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7669719	7669719	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7669719G>C	ENST00000572933.1	+	22	5055	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1199Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1199	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATGCGGGAAGAGGAAAATAG	0.547																																																	0													104.0	88.0	94.0					17																	7669719		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3595G>C	17.37:g.7669719G>C	ENSP00000458355:p.Glu1199Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E1199Q	ENST00000572933.1	37	c.3595	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603589	0.46423	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25085	1.82	5.93	5.93	0.95920	.	0.056504	0.64402	D	0.000002	T	0.16854	0.0405	N	0.11927	0.2	0.80722	D	1	B	0.18166	0.026	B	0.17098	0.017	T	0.10064	-1.0646	10	0.21014	T	0.42	.	17.2605	0.87068	0.0:0.0:1.0:0.0	.	1199	Q9P225	DYH2_HUMAN	Q	1199	ENSP00000373825:E1199Q	ENSP00000353818:E1199Q	E	+	1	0	DNAH2	7610444	1.000000	0.71417	0.948000	0.38648	0.976000	0.68499	7.278000	0.78587	2.815000	0.96918	0.561000	0.74099	GAG	DNAH2	-	NULL		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7669719	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.999	C
DNAJC3	5611	genome.wustl.edu	37	13	96438251	96438251	+	Missense_Mutation	SNP	A	A	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:96438251A>C	ENST00000602402.1	+	10	1251	c.1134A>C	c.(1132-1134)gaA>gaC	p.E378D	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E327D	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	378	Flexible linker.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGATTCGAGAAGGTCTAGAGA	0.294																																																	0													53.0	53.0	53.0					13																	96438251		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1134A>C	13.37:g.96438251A>C	ENSP00000473631:p.Glu378Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E378D	ENST00000602402.1	37	c.1134	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686276	0.47991	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);	0.043319	0.85682	D	0.000000	T	0.48466	0.1501	L	0.46885	1.475	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.48317	-0.9046	9	0.49607	T	0.09	-20.7082	7.84	0.29393	0.8066:0.0:0.0688:0.1246	.	378;378	A8KA82;Q13217	.;DNJC3_HUMAN	D	378	.	ENSP00000365991:E378D	E	+	3	2	DNAJC3	95236252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.427000	0.44740	2.311000	0.77944	0.533000	0.62120	GAA	DNAJC3	-	NULL		0.294	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	A			96438251	+1	no_errors	ENST00000376795	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC3	5611	genome.wustl.edu	37	13	96438258	96438258	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:96438258G>C	ENST00000602402.1	+	10	1258	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E330Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	381	Flexible linker.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGAAGGTCTAGAGAAAGCACA	0.303																																																	0													52.0	52.0	52.0					13																	96438258		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1141G>C	13.37:g.96438258G>C	ENSP00000473631:p.Glu381Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E381Q	ENST00000602402.1	37	c.1141	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261843	0.39995	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.72	4.86	0.63082	Tetratricopeptide-like helical (1);	0.132444	0.64402	D	0.000002	T	0.35393	0.0930	N	0.04320	-0.23	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.09377	0.004;0.004	T	0.13176	-1.0519	9	0.17832	T	0.49	-18.079	16.3141	0.82909	0.0:0.0:0.8667:0.1333	.	381;381	A8KA82;Q13217	.;DNJC3_HUMAN	Q	381	.	ENSP00000365991:E381Q	E	+	1	0	DNAJC3	95236259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	1.518000	0.48934	0.655000	0.94253	GAG	DNAJC3	-	NULL		0.303	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	G			96438258	+1	no_errors	ENST00000376795	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK6	57572	genome.wustl.edu	37	19	11332632	11332632	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:11332632C>T	ENST00000294618.7	-	28	3456	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N	DOCK6_ENST00000319867.7_Missense_Mutation_p.D488N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1149					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TAGCGGGGGTCAGTGTCATGG	0.587																																																	0													69.0	76.0	73.0					19																	11332632		2112	4229	6341	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3445G>A	19.37:g.11332632C>T	ENSP00000294618:p.Asp1149Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.D1149N	ENST00000294618.7	37	c.3445	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818271	0.71028	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.56103	1.28;0.48	4.65	4.65	0.58169	.	0.056236	0.64402	D	0.000002	T	0.75250	0.3824	M	0.86268	2.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.80471	-0.1368	10	0.87932	D	0	-37.1816	16.4402	0.83898	0.0:1.0:0.0:0.0	.	488;1149	C9IZV6;Q96HP0	.;DOCK6_HUMAN	N	1149;488	ENSP00000294618:D1149N;ENSP00000321556:D488N	ENSP00000294618:D1149N	D	-	1	0	DOCK6	11193632	1.000000	0.71417	0.921000	0.36526	0.050000	0.14768	7.460000	0.80816	2.414000	0.81942	0.491000	0.48974	GAC	DOCK6	-	NULL		0.587	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11332632	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37605362	37605362	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:37605362G>A	ENST00000399151.3	+	15	2696	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	871					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGAGAAAACAGATTTCTATCA	0.493																																																	0													68.0	64.0	65.0					21																	37605362		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2611G>A	21.37:g.37605362G>A	ENSP00000382104:p.Asp871Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.D871N	ENST00000399151.3	37	c.2611	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831097	0.71258	.	.	ENSG00000142197	ENST00000399151	T	0.66280	-0.2	5.98	5.1	0.69264	.	0.044927	0.85682	N	0.000000	T	0.75170	0.3813	M	0.67953	2.075	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	D;P	0.68353	0.957;0.907	T	0.72981	-0.4126	10	0.24483	T	0.36	3.1038	15.3908	0.74741	0.0665:0.0:0.9335:0.0	.	871;871	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	871	ENSP00000382104:D871N	ENSP00000382104:D871N	D	+	1	0	DOPEY2	36527232	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.217000	0.72218	1.538000	0.49270	-0.157000	0.13467	GAT	DOPEY2	-	NULL		0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37605362	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	A
DPP6	1804	genome.wustl.edu	37	7	154237635	154237635	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:154237635G>A	ENST00000377770.3	+	4	617	c.476G>A	c.(475-477)aGa>aAa	p.R159K	DPP6_ENST00000427557.1_Missense_Mutation_p.R97K|DPP6_ENST00000406326.1_Missense_Mutation_p.R159K|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.R97K|DPP6_ENST00000404039.1_Missense_Mutation_p.R95K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	159					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTCATCTACAGAGAACAGAAA	0.348																																					NSCLC(125;1384 1783 2490 7422 34254)												0													66.0	62.0	63.0					7																	154237635		1836	4083	5919	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.476G>A	7.37:g.154237635G>A	ENSP00000367001:p.Arg159Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.R159K	ENST00000377770.3	37	c.476		7	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554861	0.45487	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.2	5.2	0.72013	.	0.049690	0.85682	D	0.000000	T	0.40522	0.1120	.	.	.	0.47441	D	0.999426	P;D;D;D;D	0.57899	0.685;0.981;0.968;0.961;0.968	P;P;P;P;P	0.56434	0.531;0.754;0.573;0.798;0.573	T	0.05194	-1.0900	9	0.13108	T	0.6	-23.146	16.2831	0.82707	0.0:0.0:1.0:0.0	.	97;97;159;159;95	E9PDL2;P42658-2;P42658;Q8IYG9;E9PF59	.;.;DPP6_HUMAN;.;.	K	95;159;159;97;97	ENSP00000385578:R95K;ENSP00000384393:R159K;ENSP00000367001:R159K;ENSP00000328226:R97K;ENSP00000397303:R97K	ENSP00000328226:R97K	R	+	2	0	DPP6	153868568	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.354000	0.66040	2.584000	0.87258	0.563000	0.77884	AGA	DPP6	-	NULL		0.348	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	G	NM_130797		154237635	+1	no_errors	ENST00000377770	ensembl	human	known	70_37	missense	SNP	1.000	A
DPYD	1806	genome.wustl.edu	37	1	97544576	97544576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:97544576C>A	ENST00000370192.3	-	23	3134	c.3034G>T	c.(3034-3036)Gaa>Taa	p.E1012*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	1012					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CTCTTTGGTTCATAAGGTGTT	0.453																																																	0													237.0	219.0	225.0					1																	97544576		2203	4300	6503	SO:0001587	stop_gained	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.3034G>T	1.37:g.97544576C>A	ENSP00000359211:p.Glu1012*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.E1012*	ENST00000370192.3	37	c.3034	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.001705	0.98605	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.46	4.54	0.55810	.	0.256123	0.38663	N	0.001617	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.7604	16.8148	0.85730	0.0:0.8715:0.1285:0.0	.	.	.	.	X	1012	.	ENSP00000359211:E1012X	E	-	1	0	DPYD	97317164	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.177000	0.42509	1.425000	0.47237	0.561000	0.74099	GAA	DPYD	-	NULL		0.453	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97544576	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RIPPLY3	53820	genome.wustl.edu	37	21	38390286	38390286	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:38390286G>A	ENST00000329553.2	+	4	562	c.352G>A	c.(352-354)Gag>Aag	p.E118K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	118					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											TGAGTCTACTGAGTCTGCTTC	0.572																																																	0													45.0	43.0	43.0					21																	38390286		2203	4300	6503	SO:0001583	missense	53820			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.352G>A	21.37:g.38390286G>A	ENSP00000331734:p.Glu118Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E118K	ENST00000329553.2	37	c.352	CCDS13648.1	21	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651072	0.29336	.	.	ENSG00000183145	ENST00000329553	.	.	.	0.88	0.88	0.19161	.	2.253410	0.02066	N	0.051158	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	P	0.40302	0.712	B	0.27500	0.08	T	0.19647	-1.0299	9	0.48119	T	0.1	.	5.0734	0.14618	0.0:0.0:1.0:0.0	.	118	P57055	DSCR6_HUMAN	K	118	.	ENSP00000331734:E118K	E	+	1	0	DSCR6	37312156	0.160000	0.22878	0.004000	0.12327	0.032000	0.12392	3.674000	0.54598	0.763000	0.33175	0.462000	0.41574	GAG	DSCR6	-	NULL		0.572	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR6	HGNC	protein_coding	OTTHUMT00000194703.1	G			38390286	+1	no_errors	ENST00000329553	ensembl	human	known	70_37	missense	SNP	0.009	A
DSG3	1830	genome.wustl.edu	37	18	29049278	29049278	+	Silent	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:29049278C>A	ENST00000257189.4	+	12	1946	c.1863C>A	c.(1861-1863)atC>atA	p.I621I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	621					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGCCGCCATCGGCCTGCTGC	0.587																																																	0													41.0	44.0	43.0					18																	29049278		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1863C>A	18.37:g.29049278C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I621	ENST00000257189.4	37	c.1863	CCDS11898.1	18																																																																																			DSG3	-	NULL		0.587	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29049278	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	0.339	A
DSG2	1829	genome.wustl.edu	37	18	29126264	29126264	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:29126264C>T	ENST00000261590.8	+	15	3124	c.2915C>T	c.(2914-2916)tCt>tTt	p.S972F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	972					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCTCCAGCTTCTACCTTGGTA	0.507																																																	0													106.0	107.0	107.0					18																	29126264		1984	4168	6152	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2915C>T	18.37:g.29126264C>T	ENSP00000261590:p.Ser972Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.S972F	ENST00000261590.8	37	c.2915	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572942	0.45798	.	.	ENSG00000046604	ENST00000261590	T	0.81415	-1.49	5.16	5.16	0.70880	.	0.339286	0.25723	N	0.028736	D	0.87811	0.6271	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.60173	0.87	D	0.88428	0.3033	10	0.72032	D	0.01	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	972	Q14126	DSG2_HUMAN	F	972	ENSP00000261590:S972F	ENSP00000261590:S972F	S	+	2	0	DSG2	27380262	0.193000	0.23313	0.008000	0.14137	0.048000	0.14542	5.126000	0.64721	2.840000	0.97914	0.655000	0.94253	TCT	DSG2	-	NULL		0.507	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	C	NM_001943		29126264	+1	no_errors	ENST00000261590	ensembl	human	known	70_37	missense	SNP	0.059	T
DUSP16	80824	genome.wustl.edu	37	12	12630173	12630173	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:12630173G>C	ENST00000228862.2	-	7	2223	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	531					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAGGCCAGCAGACTTCGTGAG	0.572																																					Ovarian(158;443 1896 15437 36069 46477)												0													60.0	66.0	64.0					12																	12630173		2203	4300	6503	SO:0001583	missense	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1592C>G	12.37:g.12630173G>C	ENSP00000228862:p.Ser531Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S531C	ENST00000228862.2	37	c.1592	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929237	0.52759	.	.	ENSG00000111266	ENST00000228862	T	0.02421	4.3	4.73	4.73	0.59995	.	1.395630	0.04236	N	0.336167	T	0.07728	0.0194	L	0.50333	1.59	0.80722	D	1	P;P	0.52463	0.953;0.953	B;B	0.43754	0.43;0.43	T	0.48091	-0.9065	10	0.56958	D	0.05	.	18.2723	0.90072	0.0:0.0:1.0:0.0	.	531;531	Q9BY84;Q96N49	DUS16_HUMAN;.	C	531	ENSP00000228862:S531C	ENSP00000228862:S531C	S	-	2	0	DUSP16	12521440	1.000000	0.71417	0.927000	0.36925	0.738000	0.42128	7.875000	0.87205	2.620000	0.88729	0.655000	0.94253	TCT	DUSP16	-	NULL		0.572	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	G	NM_030640		12630173	-1	no_errors	ENST00000228862	ensembl	human	known	70_37	missense	SNP	1.000	C
ECT2L	345930	genome.wustl.edu	37	6	139203879	139203879	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:139203879G>A	ENST00000423192.1	+	15	2060	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	ECT2L_ENST00000541398.1_Silent_p.L564L|ECT2L_ENST00000367682.2_Silent_p.L633L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	633	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAGATAACCTGAGAGACAGAC	0.413			"""N, Splice, Mis"""		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													91.0	88.0	89.0					6																	139203879		1905	4128	6033	SO:0001819	synonymous_variant	345930				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1899G>A	6.37:g.139203879G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain	p.L633	ENST00000423192.1	37	c.1899	CCDS43508.1	6																																																																																			ECT2L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.413	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	G	NM_001077706		139203879	+1	no_errors	ENST00000367682	ensembl	human	known	70_37	silent	SNP	0.983	A
EEF1G	1937	genome.wustl.edu	37	11	62327819	62327819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62327819C>T	ENST00000329251.4	-	8	1095	c.965G>A	c.(964-966)tGg>tAg	p.W322*	EEF1G_ENST00000378019.3_Nonsense_Mutation_p.W372*|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	322	EF-1-gamma C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00519}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGAGTACCACAGGGACCA	0.488																																																	0													31.0	27.0	28.0					11																	62327819		1880	4102	5982	SO:0001587	stop_gained	1937			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.965G>A	11.37:g.62327819C>T	ENSP00000331901:p.Trp322*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Nonsense_Mutation	SNP	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.W372*	ENST00000329251.4	37	c.1115	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.160171	0.94727	.	.	ENSG00000254772	ENST00000329251;ENST00000378019;ENST00000424909	.	.	.	4.7	4.7	0.59300	.	0.055497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2077	0.73192	0.0:1.0:0.0:0.0	.	.	.	.	X	322;372;91	.	ENSP00000331901:W322X	W	-	2	0	EEF1G	62084395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.465000	0.83290	0.550000	0.68814	TGG	EEF1G	-	pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con		0.488	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	HGNC	protein_coding	OTTHUMT00000395047.1	C	NM_001404		62327819	-1	no_errors	ENST00000378019	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EGFR	1956	genome.wustl.edu	37	7	55249087	55249087	+	Silent	SNP	C	C	T	rs375332959		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:55249087C>T	ENST00000275493.2	+	20	2562	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	EGFR_ENST00000455089.1_Silent_p.F750F|EGFR_ENST00000454757.2_Silent_p.F742F|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	795	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCATGCCCTTCGGCTGCCTCC	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0								C		1,4405	2.1+/-5.4	0,1,2202	95.0	82.0	86.0		2385	-5.8	0.5	7		86	0,8600		0,0,4300	no	coding-synonymous	EGFR	NM_005228.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		795/1211	55249087	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2385C>T	7.37:g.55249087C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F795	ENST00000275493.2	37	c.2385	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249087	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	0.896	T
EHMT1	79813	genome.wustl.edu	37	9	140605430	140605430	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:140605430G>A	ENST00000460843.1	+	2	60	c.33G>A	c.(31-33)gcG>gcA	p.A11A	EHMT1_ENST00000371394.2_Intron|EHMT1_ENST00000334856.6_5'UTR|EHMT1_ENST00000462484.1_Silent_p.A11A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	11					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGTTCCGGCGAGGGGGGAGC	0.572																																																	0													17.0	19.0	18.0					9																	140605430		1566	3577	5143	SO:0001819	synonymous_variant	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.33G>A	9.37:g.140605430G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A11	ENST00000460843.1	37	c.33	CCDS7050.2	9																																																																																			EHMT1	-	NULL		0.572	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	G	NM_024757		140605430	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	silent	SNP	0.062	A
ELAVL4	1996	genome.wustl.edu	37	1	50659540	50659540	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:50659540C>T	ENST00000371823.4	+	4	682	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ELAVL4_ENST00000371821.1_Missense_Mutation_p.S158L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.S170L|ELAVL4_ENST00000371827.1_Missense_Mutation_p.S153L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.S158L|ELAVL4_ENST00000371824.1_Missense_Mutation_p.S153L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.S156L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	153	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACTTTTCTCGCAATACGGC	0.463																																																	0													190.0	166.0	174.0					1																	50659540		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.458C>T	1.37:g.50659540C>T	ENSP00000360888:p.Ser153Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S158L	ENST00000371823.4	37	c.473	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901780	0.72754	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.73753	2.245	0.80722	D	1	P;P;P;P;P;P;P	0.52061	0.871;0.95;0.938;0.751;0.707;0.844;0.871	B;B;B;B;B;B;B	0.42188	0.235;0.379;0.261;0.235;0.151;0.151;0.235	T	0.17107	-1.0380	10	0.72032	D	0.01	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	158;158;153;153;170;153;156	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	L	156;153;170;153;153;158;158	ENSP00000399939:S156L;ENSP00000360892:S153L;ENSP00000349594:S170L;ENSP00000360889:S153L;ENSP00000360888:S153L;ENSP00000360886:S158L;ENSP00000360884:S158L	ENSP00000349594:S170L	S	+	2	0	ELAVL4	50432127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.906000	0.99361	0.655000	0.94253	TCG	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF		0.463	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	C	NM_021952		50659540	+1	no_errors	ENST00000371821	ensembl	human	known	70_37	missense	SNP	1.000	T
ELMO2	63916	genome.wustl.edu	37	20	45003955	45003955	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:45003955C>G	ENST00000290246.6	-	13	1179	c.985G>C	c.(985-987)Gat>Cat	p.D329H	ELMO2_ENST00000372176.1_Missense_Mutation_p.D241H|ELMO2_ENST00000454865.2_Missense_Mutation_p.D61H|ELMO2_ENST00000445496.2_Missense_Mutation_p.D146H|ELMO2_ENST00000439931.2_Missense_Mutation_p.D341H|ELMO2_ENST00000396391.1_Missense_Mutation_p.D329H|ELMO2_ENST00000352077.2_Missense_Mutation_p.D327H|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	329	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTGCTAGGATCAGACTCTGCG	0.488																																																	0													182.0	114.0	137.0					20																	45003955		2203	4300	6503	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.985G>C	20.37:g.45003955C>G	ENSP00000290246:p.Asp329His	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D341H	ENST00000290246.6	37	c.1021	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862628	0.91511	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.33654	2.4;2.14;2.4;2.41;1.83;1.84;2.4;1.4;1.77	4.81	4.81	0.61882	Engulfment/cell motility, ELMO (2);	0.046212	0.85682	D	0.000000	T	0.51805	0.1696	L	0.46157	1.445	0.80722	D	1	P;P;P;P;P	0.52463	0.865;0.86;0.953;0.916;0.916	P;P;P;P;P	0.62014	0.726;0.811;0.863;0.726;0.897	T	0.52139	-0.8615	10	0.59425	D	0.04	-28.0823	17.0502	0.86516	0.0:1.0:0.0:0.0	.	341;61;329;146;329	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	H	329;241;329;341;146;61;327;117;329	ENSP00000290246:D329H;ENSP00000361249:D241H;ENSP00000379673:D329H;ENSP00000396519:D341H;ENSP00000409920:D146H;ENSP00000415641:D61H;ENSP00000326172:D327H;ENSP00000388962:D117H;ENSP00000416181:D329H	ENSP00000290246:D329H	D	-	1	0	ELMO2	44437362	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.651000	0.83577	2.489000	0.83994	0.555000	0.69702	GAT	ELMO2	-	pfam_Engulfment_cell_motility_ELMO		0.488	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	C	NM_022086		45003955	-1	no_errors	ENST00000439931	ensembl	human	known	70_37	missense	SNP	1.000	G
E2F4	1874	genome.wustl.edu	37	16	67233124	67233124	+	IGR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:67233124C>T	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Silent_p.L18L|ELMO3_ENST00000360833.1_Silent_p.L18L|ELMO3_ENST00000477898.1_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGTCAGGTCTCGGAAAGGGAG	0.687																																																	0													21.0	30.0	27.0					16																	67233124		2080	4206	6286	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233124C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L18	ENST00000379378.3	37	c.54	CCDS32464.1	16																																																																																			ELMO3	-	NULL		0.687	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	C	NM_001950		67233124	+1	no_errors	ENST00000393997	ensembl	human	known	70_37	silent	SNP	0.000	T
ELN	2006	genome.wustl.edu	37	7	73483018	73483018	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:73483018G>A	ENST00000252034.7	+	33	2562	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	ELN_ENST00000357036.5_Silent_p.R708R|ELN_ENST00000380584.4_Silent_p.R655R|ELN_ENST00000429192.1_Silent_p.R689R|ELN_ENST00000414324.1_Silent_p.R697R|ELN_ENST00000445912.1_Silent_p.R703R|ELN_ENST00000380553.4_Silent_p.R567R|ELN_ENST00000380575.4_Silent_p.R674R|ELN_ENST00000358929.4_Silent_p.R789R|ELN_ENST00000458204.1_Silent_p.R711R|ELN_ENST00000380562.4_Silent_p.R727R|ELN_ENST00000380576.5_Silent_p.R702R|ELN_ENST00000320399.6_Silent_p.R754R|ELN_ENST00000320492.7_Silent_p.R640R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTTGTGGCCGGAAGAGAAAAT	0.577			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													135.0	119.0	125.0					7																	73483018		2203	4300	6503	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.2163G>A	7.37:g.73483018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.R789	ENST00000252034.7	37	c.2367	CCDS5562.2	7																																																																																			ELN	-	prints_Tropoelastin		0.577	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73483018	+1	no_errors	ENST00000358929	ensembl	human	known	70_37	silent	SNP	1.000	A
PHB2	11331	genome.wustl.edu	37	12	7079948	7079948	+	5'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:7079948C>T	ENST00000535923.1	-	0	40				PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000261406.6_5'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						GCTGCCCTCCCAGGGAGGGCA	0.567																																																	0																																										SO:0001623	5_prime_UTR_variant	10436			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.-242G>A	12.37:g.7079948C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000535923.1	37	NULL	CCDS53741.1	12																																																																																			EMG1	-	-		0.567	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMG1	HGNC	protein_coding	OTTHUMT00000400040.3	C	NM_007273		7079948	+1	no_errors	ENST00000261406	ensembl	human	known	70_37	rna	SNP	0.073	T
EML3	256364	genome.wustl.edu	37	11	62373588	62373588	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:62373588C>G	ENST00000394773.2	-	13	1910	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.D318H|EML3_ENST00000494176.2_Missense_Mutation_p.D507H|EML3_ENST00000278845.4_Missense_Mutation_p.D536H|EML3_ENST00000529309.1_Missense_Mutation_p.D535H|EML3_ENST00000438258.1_5'UTR	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	535						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCCGGCGGTCCCGCCCGCCA	0.642																																																	0													48.0	59.0	55.0					11																	62373588		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1603G>C	11.37:g.62373588C>G	ENSP00000378254:p.Asp535His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D535H	ENST00000394773.2	37	c.1603	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.691559|4.691559	0.88735|0.88735	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.56941|.	0.86;0.82;0.43;0.43;0.43|.	5.25|5.25	5.25|5.25	0.73442|0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84070|0.84070	0.5391|0.5391	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.997;0.99;1.0;0.997;0.999|.	D|D	0.87206|0.87206	0.2244|0.2244	10|5	0.87932|.	D|.	0|.	-22.2953|-22.2953	16.3399|16.3399	0.83079|0.83079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	535;535;318;536;507|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	H|A	535;536;318;507;535|529	ENSP00000378254:D535H;ENSP00000278845:D536H;ENSP00000433417:D318H;ENSP00000435064:D507H;ENSP00000434513:D535H|.	ENSP00000278845:D536H|.	D|G	-|-	1|2	0|0	EML3|EML3	62130164|62130164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.086000|7.086000	0.76885|0.76885	2.450000|2.450000	0.82876|0.82876	0.467000|0.467000	0.42956|0.42956	GAC|GGA	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.642	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62373588	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	1.000	G
EML6	400954	genome.wustl.edu	37	2	55130535	55130535	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:55130535C>T	ENST00000356458.6	+	23	3825	c.3305C>T	c.(3304-3306)tCc>tTc	p.S1102F		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1102						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						GCCGTGGCATCCCATGATAAC	0.368																																																	0													147.0	118.0	126.0					2																	55130535		692	1591	2283	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3305C>T	2.37:g.55130535C>T	ENSP00000348842:p.Ser1102Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1102F	ENST00000356458.6	37	c.3305	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901387	0.92035	.	.	ENSG00000214595	ENST00000356458	T	0.07688	3.17	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.49916	U	0.000126	T	0.43590	0.1254	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61860	-0.6976	10	0.87932	D	0	.	18.6729	0.91518	0.0:1.0:0.0:0.0	.	1102	Q6ZMW3	EMAL6_HUMAN	F	1102	ENSP00000348842:S1102F	ENSP00000348842:S1102F	S	+	2	0	EML6	54984039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.493000	0.84123	0.655000	0.94253	TCC	EML6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.368	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	C	XM_001725002		55130535	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	missense	SNP	1.000	T
RP13-379L11.2	0	genome.wustl.edu	37	20	56533974	56533974	+	lincRNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:56533974G>A	ENST00000371169.1	-	0	742																											GGTGTGGAATGAACTCCACCC	0.483																																																	0																																												0																															20.37:g.56533974G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000371169.1	37	NULL		20																																																																																			RP13-379L11.2	-	-		0.483	RP13-379L11.2-001	KNOWN	basic	lincRNA	ENSG00000203971	Clone_based_vega_gene	lincRNA	OTTHUMT00000267816.1	G			56533974	-1	no_errors	ENST00000371169	ensembl	human	known	70_37	rna	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000212.1	64707	64707	+	IGR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrGL000212.1:64707G>A								None (None upstream) : None (None downstream)																							CATGGGCAACGAGGTCACCAT	0.697																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64707G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.T152		37	c.456		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.697					ENSG00000212857	Clone_based_ensembl_gene			G			64707	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	A
TDRD15	100129278	genome.wustl.edu	37	2	21365644	21365644	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:21365644C>T	ENST00000405799.1	+	4	5635	c.5305C>T	c.(5305-5307)Cta>Tta	p.L1769L				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1769							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										GCTTTCTGATCTACCAGAGAC	0.353																																																	0																																										SO:0001819	synonymous_variant	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.5305C>T	2.37:g.21365644C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.L1769	ENST00000405799.1	37	c.5305		2																																																																																			AC010872.2	-	pfam_Tudor		0.353	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	C			21365644	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	silent	SNP	0.058	T
AC008836.1	0	genome.wustl.edu	37	5	60853118	60853118	+	RNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:60853118G>A	ENST00000411268.1	+	0	9																											TTATGGTTCAGAGTGTGTTTA	0.308																																																	0																																												0																															5.37:g.60853118G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000411268.1	37	NULL		5																																																																																			AC008836.1	-	-		0.308	AC008836.1-201	NOVEL	basic	miRNA	ENSG00000223200	Clone_based_ensembl_gene	miRNA		G			60853118	+1	no_errors	ENST00000411268	ensembl	human	novel	70_37	rna	SNP	0.000	A
LOC101927797	101927797	genome.wustl.edu	37	21	19933965	19933965	+	lincRNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:19933965C>T	ENST00000437492.1	-	0	470																											ttggcctgttcttgatggtcg	0.433																																																	0																																												0																															21.37:g.19933965C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000437492.1	37	NULL		21																																																																																			AL109763.2	-	-		0.433	AL109763.2-001	KNOWN	basic	lincRNA	ENSG00000224141	Clone_based_vega_gene	lincRNA	OTTHUMT00000158276.1	C			19933965	-1	no_errors	ENST00000355189	ensembl	human	known	70_37	rna	SNP	0.000	T
C10orf67	256815	genome.wustl.edu	37	10	23633008	23633008	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:23633008G>A	ENST00000323327.4	-	1	277				RP11-371A19.2_ENST00000443224.1_RNA	NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67											central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						CCGTTGCCATGGCGACTCCCA	0.746																																																	0																																										SO:0001627	intron_variant	0			BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.209+489C>T	10.37:g.23633008G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUP9|Q5SWD4	RNA	SNP	-	NULL	ENST00000323327.4	37	NULL	CCDS44365.1	10																																																																																			RP11-371A19.2	-	-		0.746	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224215	Clone_based_vega_gene	protein_coding	OTTHUMT00000047213.1	G	NM_153714		23633008	+1	no_errors	ENST00000443224	ensembl	human	known	70_37	rna	SNP	1.000	A
RSU1P2	100133308	genome.wustl.edu	37	10	45602409	45602409	+	RNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:45602409C>T	ENST00000423875.1	-	0	1027									Ras suppressor protein 1 pseudogene 2																		AAGGCTGCAGCAGTGAATTGA	0.378																																																	0																																												0					10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602409C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423875.1	37	NULL		10																																																																																			RP11-445N18.9	-	-		0.378	RSU1P2-002	KNOWN	basic	processed_transcript	ENSG00000232554	Clone_based_vega_gene	pseudogene	OTTHUMT00000471233.1	C			45602409	-1	no_errors	ENST00000423875	ensembl	human	known	70_37	rna	SNP	0.942	T
TSSK1B	83942	genome.wustl.edu	37	5	112768996	112768996	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:112768996G>A	ENST00000390666.3	-	0	1732				CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B						multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGGTCCCCTGACCCTCAGTC	0.701																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.*437C>T	5.37:g.112768996G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D9	RNA	SNP	-	NULL	ENST00000390666.3	37	NULL	CCDS4112.1	5																																																																																			CTD-2201G3.1	-	-		0.701	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232633	Clone_based_vega_gene	protein_coding	OTTHUMT00000250774.2	G	NM_032028		112768996	+1	no_errors	ENST00000416046	ensembl	human	known	70_37	rna	SNP	0.195	A
TSSK1B	83942	genome.wustl.edu	37	5	112769108	112769108	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:112769108C>T	ENST00000390666.3	-	0	1620				CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B						multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCTGCTGCTCTTCCTGCTCT	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.*325G>A	5.37:g.112769108C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D9	RNA	SNP	-	NULL	ENST00000390666.3	37	NULL	CCDS4112.1	5																																																																																			CTD-2201G3.1	-	-		0.652	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232633	Clone_based_vega_gene	protein_coding	OTTHUMT00000250774.2	C	NM_032028		112769108	+1	no_errors	ENST00000416046	ensembl	human	known	70_37	rna	SNP	0.996	T
TRIM52	84851	genome.wustl.edu	37	5	180684379	180684379	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:180684379G>A	ENST00000327767.4	-	0	1234				CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000506340.1_RNA|TRIM52_ENST00000514805.1_5'Flank|AC008443.1_ENST00000599439.1_3'UTR|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52						positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TATCCTTAATGAACACCTCCT	0.353																																																	0													95.0	84.0	88.0					5																	180684379		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.*36C>T	5.37:g.180684379G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000327767.4	37	NULL	CCDS4467.1	5																																																																																			CTC-338M12.4	-	-		0.353	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233937	Clone_based_vega_gene	protein_coding	OTTHUMT00000253572.3	G	NM_032765		180684379	+1	no_errors	ENST00000417281	ensembl	human	putative	70_37	rna	SNP	0.001	A
RP11-435B5.5	0	genome.wustl.edu	37	1	143398948	143398948	+	lincRNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:143398948G>A	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							AAAATTCTATGATGATTTAAA	0.289																																																	0																																												0																															1.37:g.143398948G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.289	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	G			143398948	+1	no_errors	ENST00000458155	ensembl	human	known	70_37	rna	SNP	0.157	A
BCAR1	9564	genome.wustl.edu	37	16	75260568	75260568	+	IGR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:75260568C>T	ENST00000162330.5	-	0	3221				BCAR1_ENST00000566982.1_5'Flank|RP11-331F4.4_ENST00000489723.1_RNA	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1						actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCACTTCTGCGGGGGCTACC	0.627																																																	0																																										SO:0001628	intergenic_variant	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604		16.37:g.75260568C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	RNA	SNP	-	NULL	ENST00000162330.5	37	NULL	CCDS10915.1	16																																																																																			RP11-331F4.4	-	-		0.627	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000240338	Clone_based_vega_gene	protein_coding	OTTHUMT00000269017.1	C	NM_014567		75260568	+1	no_errors	ENST00000489723	ensembl	human	known	70_37	rna	SNP	0.998	T
LINC01330	646168	genome.wustl.edu	37	3	167621185	167621185	+	lincRNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:167621185C>T	ENST00000481578.1	+	0	229																											TGGGTCAGCTCCATCAAGGAG	0.378																																																	0																																												0																															3.37:g.167621185C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000481578.1	37	NULL		3																																																																																			RP11-298O21.5	-	-		0.378	RP11-298O21.5-002	KNOWN	basic	lincRNA	ENSG00000244227	Clone_based_vega_gene	lincRNA	OTTHUMT00000351188.1	C			167621185	+1	no_errors	ENST00000459923	ensembl	human	known	70_37	rna	SNP	0.001	T
Unknown	0	genome.wustl.edu	37	4	2446868	2446868	+	IGR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:2446868G>C								RP11-503N18.1 (15896 upstream) : RP11-503N18.3 (4831 downstream)																							ATGGCAGCCAGAGGTCCAGGA	0.532																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.2446868G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		4																																																																																			RP11-503N18.2	-	-	0	0.532					ENSG00000249391	Clone_based_vega_gene			G			2446868	+1	no_errors	ENST00000514556	ensembl	human	known	70_37	rna	SNP	0.118	C
ADAM7	8756	genome.wustl.edu	37	8	24349638	24349638	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:24349638C>T	ENST00000175238.6	+	14	1635				RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Intron|ADAM7_ENST00000380789.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTGAAGTATTCACACAGATGG	0.408																																																	0													59.0	59.0	59.0					8																	24349638		2203	4300	6503	SO:0001627	intron_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1552+27C>T	8.37:g.24349638C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X7|O75959|Q6PEJ6	RNA	SNP	-	NULL	ENST00000175238.6	37	NULL	CCDS6045.1	8																																																																																			RP11-561E1.1	-	-		0.408	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253643	Clone_based_vega_gene	protein_coding	OTTHUMT00000215150.1	C	NM_003817		24349638	-1	no_errors	ENST00000519364	ensembl	human	known	70_37	rna	SNP	0.000	T
LDHA	3939	genome.wustl.edu	37	11	18427225	18427225	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:18427225G>A	ENST00000422447.3	+	7	1107				LDHA_ENST00000379412.5_Intron|LDHA_ENST00000430553.2_Intron|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000227157.4_Intron|LDHA_ENST00000542179.1_Intron|LDHA_ENST00000540430.1_Intron|AC084117.3_ENST00000496975.2_RNA	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A						cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TGACTTAAGTGAAATAAATTA	0.323																																																	0																																										SO:0001627	intron_variant	0			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.834+106G>A	11.37:g.18427225G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	RNA	SNP	-	NULL	ENST00000422447.3	37	NULL	CCDS7839.1	11																																																																																			AC084117.3	-	-		0.323	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256006	Clone_based_vega_gene	protein_coding	OTTHUMT00000258172.2	G	NM_005566		18427225	+1	no_errors	ENST00000496975	ensembl	human	known	70_37	rna	SNP	0.002	A
PRICKLE1	144165	genome.wustl.edu	37	12	42853436	42853436	+	3'UTR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:42853436G>C	ENST00000455697.1	-	0	2956				PRICKLE1_ENST00000445766.2_3'UTR|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_3'UTR|PPHLN1_ENST00000317560.9_3'UTR|PRICKLE1_ENST00000548696.1_3'UTR|PRICKLE1_ENST00000552240.1_3'UTR	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGTAAATTGGAGAAATCACA	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.*175C>G	12.37:g.42853436G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C83|Q71QF8|Q96N00	RNA	SNP	-	NULL	ENST00000455697.1	37	NULL	CCDS8742.1	12																																																																																			RP11-328C8.4	-	-		0.443	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257225	Clone_based_vega_gene	protein_coding	OTTHUMT00000404069.1	G			42853436	+1	no_errors	ENST00000547824	ensembl	human	known	70_37	rna	SNP	0.342	C
HCAR3	8843	genome.wustl.edu	37	12	123200108	123200108	+	3'UTR	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:123200108G>T	ENST00000528880.2	-	0	1331				HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	ATCTTAGGCCGAGTCCAGTGA	0.483																																																	0													81.0	86.0	84.0					12																	123200108		2188	4291	6479	SO:0001624	3_prime_UTR_variant	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.*13C>A	12.37:g.123200108G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4G5|B2R830|E9PI97|Q8NGE4	RNA	SNP	-	NULL	ENST00000528880.2	37	NULL	CCDS53842.1	12																																																																																			RP11-324E6.6	-	-		0.483	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256249	Clone_based_vega_gene	protein_coding	OTTHUMT00000387549.2	G	NM_006018		123200108	+1	no_errors	ENST00000543611	ensembl	human	known	70_37	rna	SNP	0.010	T
METTL17	64745	genome.wustl.edu	37	14	21464113	21464113	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:21464113G>A	ENST00000339374.6	+	11	1229				METTL17_ENST00000556670.2_Intron|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Intron	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TTGCCCCGGTGAGTATTACTT	0.473																																																	0													126.0	128.0	127.0					14																	21464113		2203	4300	6503	SO:0001627	intron_variant	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.996+3G>A	14.37:g.21464113G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BSH1|Q9BZH2|Q9BZH3	RNA	SNP	-	NULL	ENST00000339374.6	37	NULL	CCDS9562.1	14																																																																																			RP11-84C10.4	-	-		0.473	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258471	Clone_based_vega_gene	protein_coding	OTTHUMT00000073804.4	G	NM_022734		21464113	-1	no_errors	ENST00000557335	ensembl	human	known	70_37	rna	SNP	0.998	A
STRIP1	85369	genome.wustl.edu	37	1	110597279	110597279	+	IGR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:110597279C>T	ENST00000369795.3	+	0	3265					NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1						cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GTTGGCTTGTCTACAGGAAAT	0.398																																																	0																																										SO:0001628	intergenic_variant	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607		1.37:g.110597279C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	RNA	SNP	-	NULL	ENST00000369795.3	37	NULL	CCDS30798.1	1																																																																																			RP4-773N10.5	-	-		0.398	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258686	Clone_based_vega_gene	protein_coding	OTTHUMT00000032213.1	C	NM_033088		110597279	+1	no_errors	ENST00000473429	ensembl	human	known	70_37	rna	SNP	0.028	T
RP11-143J24.1	0	genome.wustl.edu	37	15	30297941	30297941	+	lincRNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:30297941C>T	ENST00000561392.1	-	0	189																											GTGGCAGTCTCTGTCCTCAAT	0.418																																																	0																																												0																															15.37:g.30297941C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000561392.1	37	NULL		15																																																																																			RP11-143J24.1	-	-		0.418	RP11-143J24.1-001	KNOWN	basic	lincRNA	ENSG00000259647	Clone_based_vega_gene	lincRNA	OTTHUMT00000417288.1	C			30297941	-1	no_errors	ENST00000561392	ensembl	human	known	70_37	rna	SNP	0.662	T
AKTIP	64400	genome.wustl.edu	37	16	53525642	53525642	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:53525642C>T	ENST00000394657.7	-	0	1735				AKTIP_ENST00000300245.4_3'UTR	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TATTTTGTCTCTACTAAACAC	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.*682G>A	16.37:g.53525642C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q503B1|Q53H38	RNA	SNP	-	NULL	ENST00000394657.7	37	NULL	CCDS10749.1	16																																																																																			RP11-44F14.11	-	-		0.299	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000262557	Clone_based_vega_gene	protein_coding	OTTHUMT00000256909.4	C	NM_022476		53525642	-1	no_errors	ENST00000571523	ensembl	human	known	70_37	rna	SNP	1.000	T
LRRC28	123355	genome.wustl.edu	37	15	99797757	99797757	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:99797757G>A	ENST00000301981.3	+	2	408				LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000558879.1_Intron|AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_Intron|LRRC28_ENST00000442993.2_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28											endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGGAGGTGTGAGGATCCAAC	0.537																																																	0																																										SO:0001627	intron_variant	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.168+1427G>A	15.37:g.99797757G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	RNA	SNP	-	NULL	ENST00000301981.3	37	NULL	CCDS10380.1	15																																																																																			AC022819.1	-	-		0.537	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264771	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000313546.1	G	NM_144598		99797757	+1	no_errors	ENST00000581052	ensembl	human	novel	70_37	rna	SNP	0.005	A
CAPN12	147968	genome.wustl.edu	37	19	39229399	39229399	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:39229399G>A	ENST00000328867.4	-	6	1038				CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCACTGAACTGAATGGCACGC	0.572																																																	0																																										SO:0001627	intron_variant	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.730-111C>T	19.37:g.39229399G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000328867.4	37	NULL	CCDS12519.1	19																																																																																			CTD-2540F13.2	-	-		0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267892	Clone_based_vega_gene	protein_coding	OTTHUMT00000462151.1	G			39229399	+1	no_errors	ENST00000602255	ensembl	human	known	70_37	rna	SNP	0.000	A
PINLYP	390940	genome.wustl.edu	37	19	44079728	44079728	+	5'Flank	SNP	G	G	A	rs528729795		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:44079728G>A	ENST00000599207.1	+	0	0				L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000262887.5_5'UTR|L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000543982.1_5'Flank	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)										GCAAGCGCGCGAGGCTCGGGC	0.706																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079728G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z457|O95053	RNA	SNP	-	NULL	ENST00000599207.1	37	NULL		19																																																																																			L34079.4	-	-		0.706	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	ENSG00000269583	Clone_based_vega_gene	protein_coding	OTTHUMT00000463346.2	G	NM_001193621		44079728	+1	no_errors	ENST00000600242	ensembl	human	known	70_37	rna	SNP	0.403	A
CTC-444N24.8	0	genome.wustl.edu	37	19	57774067	57774067	+	lincRNA	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:57774067G>C	ENST00000600047.1	+	0	1346																											TGGATAATTTGAGATTAAAGA	0.398																																																	0																																												0																															19.37:g.57774067G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600047.1	37	NULL		19																																																																																			CTC-444N24.8	-	-		0.398	CTC-444N24.8-001	KNOWN	basic	lincRNA	ENSG00000268713	Clone_based_vega_gene	lincRNA	OTTHUMT00000465723.1	G			57774067	+1	no_errors	ENST00000600047	ensembl	human	known	70_37	rna	SNP	0.017	C
EP300	2033	genome.wustl.edu	37	22	41523536	41523536	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41523536C>G	ENST00000263253.7	+	4	2171	c.952C>G	c.(952-954)Cca>Gca	p.P318A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	318					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTGGTGACTCCAGTTGCCCA	0.498			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													78.0	82.0	81.0					22																	41523536		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.952C>G	22.37:g.41523536C>G	ENSP00000263253:p.Pro318Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P318A	ENST00000263253.7	37	c.952	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547091	0.27652	.	.	ENSG00000100393	ENST00000263253	D	0.82711	-1.64	6.02	3.73	0.42828	.	0.285984	0.24674	N	0.036531	T	0.65491	0.2696	L	0.29908	0.895	0.35082	D	0.763547	B	0.17852	0.024	B	0.21546	0.035	T	0.58645	-0.7600	10	0.06365	T	0.9	-0.2844	3.1114	0.06360	0.2411:0.415:0.2577:0.0861	.	318	Q09472	EP300_HUMAN	A	318	ENSP00000263253:P318A	ENSP00000263253:P318A	P	+	1	0	EP300	39853482	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	1.306000	0.33505	2.857000	0.98124	0.650000	0.86243	CCA	EP300	-	NULL		0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41523536	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.979	G
EP300	2033	genome.wustl.edu	37	22	41543930	41543930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41543930C>T	ENST00000263253.7	+	12	3440	c.2221C>T	c.(2221-2223)Caa>Taa	p.Q741*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	741					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTTGGCTCAACCTGGAGC	0.463			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													115.0	106.0	109.0					22																	41543930		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2221C>T	22.37:g.41543930C>T	ENSP00000263253:p.Gln741*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q741*	ENST00000263253.7	37	c.2221	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.080638	0.99854	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.96	5.96	0.96718	.	0.152963	0.29980	N	0.010711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-6.3956	20.4116	0.99017	0.0:1.0:0.0:0.0	.	.	.	.	X	741	.	ENSP00000263253:Q741X	Q	+	1	0	EP300	39873876	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.299000	0.65716	2.827000	0.97445	0.655000	0.94253	CAA	EP300	-	NULL		0.463	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41543930	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.990	T
EP300	2033	genome.wustl.edu	37	22	41574469	41574469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:41574469G>T	ENST00000263253.7	+	31	7973	c.6754G>T	c.(6754-6756)Gag>Tag	p.E2252*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2252					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTGGGAGCAGAGGCAGGTGC	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													77.0	83.0	81.0					22																	41574469		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6754G>T	22.37:g.41574469G>T	ENSP00000263253:p.Glu2252*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E2252*	ENST00000263253.7	37	c.6754	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	53	20.125588	0.99927	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	5.5	0.81552	.	0.301644	0.23317	N	0.049500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-11.9846	19.3945	0.94601	0.0:0.0:1.0:0.0	.	.	.	.	X	2252	.	ENSP00000263253:E2252X	E	+	1	0	EP300	39904415	1.000000	0.71417	0.799000	0.32177	0.990000	0.78478	6.312000	0.72840	2.581000	0.87130	0.655000	0.94253	GAG	EP300	-	NULL		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41574469	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.834	T
EPHA2	1969	genome.wustl.edu	37	1	16475146	16475146	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16475146C>T	ENST00000358432.5	-	3	704	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCACCGATATCCTGGAAGGCC	0.652																																																	0													62.0	59.0	60.0					1																	16475146		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.550G>A	1.37:g.16475146C>T	ENSP00000351209:p.Asp184Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.D184N	ENST00000358432.5	37	c.550	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565959	0.86439	.	.	ENSG00000142627	ENST00000358432	T	0.12147	2.71	5.14	5.14	0.70334	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000019	T	0.38931	0.1059	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.23440	-1.0188	10	0.87932	D	0	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	184;184	B5A968;P29317	.;EPHA2_HUMAN	N	184	ENSP00000351209:D184N	ENSP00000351209:D184N	D	-	1	0	EPHA2	16347733	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	6.070000	0.71220	2.393000	0.81446	0.561000	0.74099	GAT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431		16475146	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHB1	2047	genome.wustl.edu	37	3	134670464	134670464	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:134670464G>T	ENST00000398015.3	+	3	745	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	125	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCACCAAGAAGTCAGCCTTCT	0.517																																																	0													99.0	100.0	99.0					3																	134670464		2027	4226	6253	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.375G>T	3.37:g.134670464G>T	ENSP00000381097:p.Lys125Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K125N	ENST00000398015.3	37	c.375	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436877	0.12104	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.03689	3.84;3.84;3.84	5.49	3.69	0.42338	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.172796	0.53938	D	0.000056	T	0.01695	0.0054	N	0.03608	-0.345	0.80722	D	1	B;B	0.21821	0.018;0.061	B;B	0.24394	0.018;0.053	T	0.52094	-0.8621	10	0.12103	T	0.63	.	6.8014	0.23754	0.1439:0.0:0.7123:0.1438	.	125;125	B5A969;P54762	.;EPHB1_HUMAN	N	103;125;103	ENSP00000417435:K103N;ENSP00000381097:K125N;ENSP00000418352:K103N	ENSP00000381097:K125N	K	+	3	2	EPHB1	136153154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.588000	0.36633	0.671000	0.31185	0.650000	0.86243	AAG	EPHB1	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	G	NM_004441		134670464	+1	no_errors	ENST00000398015	ensembl	human	known	70_37	missense	SNP	1.000	T
EPRS	2058	genome.wustl.edu	37	1	220184323	220184323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:220184323G>A	ENST00000366923.3	-	13	1839	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	524	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATCTCCTCCTGAGCTTCAGGT	0.413																																																	0													238.0	232.0	234.0					1																	220184323		2203	4300	6503	SO:0001587	stop_gained	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1570C>T	1.37:g.220184323G>A	ENSP00000355890:p.Gln524*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.Q524*	ENST00000366923.3	37	c.1570	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.510430	0.98843	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.37	5.37	0.77165	.	0.160535	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2236	14.3454	0.66658	0.0:0.0:0.8519:0.1481	.	.	.	.	X	524;531;548	.	ENSP00000355890:Q524X	Q	-	1	0	EPRS	218250946	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.540000	0.60664	2.665000	0.90641	0.655000	0.94253	CAG	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Glu-tRNA-synth_Ib_arc/euk		0.413	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220184323	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	nonsense	SNP	0.997	A
EPS8L1	54869	genome.wustl.edu	37	19	55591881	55591881	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:55591881G>A	ENST00000201647.6	+	6	485				EPS8L1_ENST00000588359.1_Missense_Mutation_p.R7K|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R7K|EPS8L1_ENST00000592824.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATGGCCAAGAAGGATCTGG	0.597																																					Ovarian(149;255 1863 3636 27051 29647)												0													76.0	63.0	68.0					19																	55591881		2203	4299	6502	SO:0001627	intron_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.429+235G>A	19.37:g.55591881G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.R7K	ENST00000201647.6	37	c.20	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101061	0.20552	.	.	ENSG00000131037	ENST00000245618;ENST00000539118	T	0.05580	3.42	2.16	1.03	0.20045	.	.	.	.	.	T	0.02342	0.0072	.	.	.	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.47032	-0.9148	8	0.05833	T	0.94	.	5.1213	0.14862	0.1854:0.0:0.8146:0.0	.	7	Q8TE68-2	.	K	7	ENSP00000245618:R7K	ENSP00000245618:R7K	R	+	2	0	EPS8L1	60283693	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	0.225000	0.20959	0.585000	0.79938	AGA	EPS8L1	-	NULL		0.597	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	G	NM_017729		55591881	+1	no_errors	ENST00000245618	ensembl	human	known	70_37	missense	SNP	0.000	A
ERAP1	51752	genome.wustl.edu	37	5	96127859	96127859	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:96127859C>T	ENST00000443439.2	-	8	1291	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	ERAP1_ENST00000296754.3_Missense_Mutation_p.E409K	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	409					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GCATCTACCTCCATTGCGTCA	0.353																																																	0													129.0	126.0	127.0					5																	96127859		2203	4300	6503	SO:0001583	missense	51752			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1225G>A	5.37:g.96127859C>T	ENSP00000406304:p.Glu409Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E409K	ENST00000443439.2	37	c.1225	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277250	0.40294	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.02579	4.24;4.24	5.86	5.86	0.93980	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.047729	0.85682	D	0.000000	T	0.03477	0.0100	N	0.25992	0.78	0.80722	D	1	B;B;B	0.19445	0.026;0.015;0.036	B;B;B	0.25987	0.065;0.048;0.028	T	0.52953	-0.8506	10	0.09843	T	0.71	.	19.797	0.96490	0.0:1.0:0.0:0.0	.	409;409;409	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	K	409	ENSP00000296754:E409K;ENSP00000406304:E409K	ENSP00000296754:E409K	E	-	1	0	ERAP1	96153615	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.556000	0.67307	2.776000	0.95493	0.655000	0.94253	GAG	ERAP1	-	pfam_Peptidase_M1_N		0.353	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	C	NM_016442		96127859	-1	no_errors	ENST00000296754	ensembl	human	known	70_37	missense	SNP	1.000	T
ERI3	79033	genome.wustl.edu	37	1	44818566	44818566	+	Missense_Mutation	SNP	G	G	A	rs201922019		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:44818566G>A	ENST00000372257.2	-	2	348	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ERI3_ENST00000537474.1_5'UTR|ERI3_ENST00000495828.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	56							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGGGATGCTGAAGGTTCTGT	0.458																																																	0													134.0	144.0	140.0					1																	44818566		2203	4300	6503	SO:0001583	missense	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.167C>T	1.37:g.44818566G>A	ENSP00000361331:p.Ser56Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S56L	ENST00000372257.2	37	c.167	CCDS30696.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599157	0.46318	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	3.7	2.79	0.32731	.	0.372476	0.21184	N	0.078769	T	0.29126	0.0724	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12091	-1.0561	9	0.87932	D	0	.	6.7973	0.23732	0.1249:0.0:0.875:0.0	.	56;56	F6UGJ8;O43414	.;ERI3_HUMAN	L	56	.	ENSP00000361331:S56L	S	-	2	0	ERI3	44591153	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.817000	0.55668	1.136000	0.42199	0.655000	0.94253	TCA	ERI3	-	NULL		0.458	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	G	NM_024066		44818566	-1	no_errors	ENST00000372257	ensembl	human	known	70_37	missense	SNP	0.997	A
ERP27	121506	genome.wustl.edu	37	12	15068496	15068496	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:15068496G>T	ENST00000266397.2	-	6	1274	c.701C>A	c.(700-702)aCa>aAa	p.T234K	ERP27_ENST00000540097.1_Missense_Mutation_p.T133K|ERP27_ENST00000544881.1_5'Flank	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	234						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGTGGGCAGTGTATCCCACTC	0.418																																																	0													123.0	118.0	120.0					12																	15068496		2203	4300	6503	SO:0001583	missense	121506			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.701C>A	12.37:g.15068496G>T	ENSP00000266397:p.Thr234Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.T234K	ENST00000266397.2	37	c.701	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305360	0.40795	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.30448	1.53;1.53	4.79	3.89	0.44902	Thioredoxin-like fold (1);	0.505274	0.22472	N	0.059616	T	0.31009	0.0783	L	0.57536	1.79	0.09310	N	1	P	0.43231	0.801	B	0.43360	0.417	T	0.11348	-1.0591	10	0.32370	T	0.25	-14.3259	9.0198	0.36193	0.0978:0.0:0.9022:0.0	.	234	Q96DN0	ERP27_HUMAN	K	234;133	ENSP00000266397:T234K;ENSP00000440573:T133K	ENSP00000266397:T234K	T	-	2	0	ERP27	14959763	0.019000	0.18553	0.028000	0.17463	0.008000	0.06430	1.860000	0.39428	1.616000	0.50265	0.655000	0.94253	ACA	ERP27	-	superfamily_Thioredoxin-like_fold		0.418	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	G	NM_152321		15068496	-1	no_errors	ENST00000266397	ensembl	human	known	70_37	missense	SNP	0.035	T
ESX1	80712	genome.wustl.edu	37	X	103499058	103499058	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:103499058C>G	ENST00000372588.4	-	2	366	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	95					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGCTGTTGCTCCGGCTTGGTC	0.716																																					Pancreas(200;1705 2227 25194 28471 45274)												0													52.0	61.0	58.0					X																	103499058		2196	4263	6459	SO:0001583	missense	80712			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.283G>C	X.37:g.103499058C>G	ENSP00000361669:p.Glu95Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	p.E95Q	ENST00000372588.4	37	c.283	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	c	8.927	0.962425	0.18583	.	.	ENSG00000123576	ENST00000372588	D	0.90788	-2.73	1.33	-0.882	0.10604	.	.	.	.	.	T	0.69780	0.3149	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.25884	0.064	T	0.65619	-0.6124	9	0.30078	T	0.28	0.4877	3.1892	0.06612	0.2515:0.559:0.0:0.1895	.	95	Q8N693	ESX1_HUMAN	Q	95	ENSP00000361669:E95Q	ENSP00000361669:E95Q	E	-	1	0	ESX1	103385714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.316000	0.08071	-0.406000	0.07588	-0.845000	0.03042	GAG	ESX1	-	NULL		0.716	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	C	NM_153448		103499058	-1	no_errors	ENST00000372588	ensembl	human	known	70_37	missense	SNP	0.000	G
ESYT2	57488	genome.wustl.edu	37	7	158560457	158560457	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:158560457G>A	ENST00000251527.5	-	8	1021	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	347	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GATAGTATCTGATAAACCACT	0.393																																																	0													74.0	70.0	71.0					7																	158560457		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.956C>T	7.37:g.158560457G>A	ENSP00000251527:p.Ser319Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S319L	ENST00000251527.5	37	c.956	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601773	0.87055	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.17370	2.28;2.28	4.75	4.75	0.60458	.	0.182652	0.49305	D	0.000150	T	0.21962	0.0529	N	0.25890	0.77	0.80722	D	1	D;D	0.58268	0.982;0.965	P;P	0.54629	0.757;0.625	T	0.02698	-1.1122	10	0.20519	T	0.43	-30.2454	17.1263	0.86715	0.0:0.0:1.0:0.0	.	347;319	A0FGR8-6;A0FGR8-2	.;.	L	319;347;289;143	ENSP00000251527:S319L;ENSP00000275418:S289L	ENSP00000251527:S319L	S	-	2	0	ESYT2	158253218	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.141000	0.64814	2.343000	0.79666	0.655000	0.94253	TCA	ESYT2	-	NULL		0.393	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	G	NM_020728		158560457	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	A
EXPH5	23086	genome.wustl.edu	37	11	108381912	108381912	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:108381912C>G	ENST00000265843.4	-	6	4432	c.4322G>C	c.(4321-4323)aGa>aCa	p.R1441T	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1365T|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1434T|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1253T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1441					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAACTTCTTCTAGTTTGGGA	0.413																																																	0													87.0	84.0	85.0					11																	108381912		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4322G>C	11.37:g.108381912C>G	ENSP00000265843:p.Arg1441Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.R1441T	ENST00000265843.4	37	c.4322	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332536	0.24167	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03717	4.05;3.98;3.83;4.05;3.89	5.73	-0.428	0.12306	.	2.031920	0.01871	N	0.037187	T	0.03959	0.0111	L	0.38175	1.15	0.09310	N	1	P	0.37276	0.589	B	0.33454	0.164	T	0.47315	-0.9127	10	0.16420	T	0.52	2.2951	9.9661	0.41725	0.1457:0.6982:0.0:0.1561	.	1441	Q8NEV8	EXPH5_HUMAN	T	1441;1365;1253;1434;1365	ENSP00000265843:R1441T;ENSP00000391966:R1365T;ENSP00000411390:R1253T;ENSP00000432546:R1434T;ENSP00000432683:R1365T	ENSP00000265843:R1441T	R	-	2	0	EXPH5	107887122	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.240000	0.18042	0.106000	0.17784	0.591000	0.81541	AGA	EXPH5	-	NULL		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	C	NM_015065		108381912	-1	no_errors	ENST00000265843	ensembl	human	known	70_37	missense	SNP	0.000	G
EYS	346007	genome.wustl.edu	37	6	64431370	64431370	+	Missense_Mutation	SNP	T	T	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:64431370T>G	ENST00000370621.3	-	44	9146	c.8620A>C	c.(8620-8622)Ata>Cta	p.I2874L	EYS_ENST00000503581.1_Missense_Mutation_p.I2853L|EYS_ENST00000370616.2_Missense_Mutation_p.I2874L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2874	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGATTATTTATGATAACTTGT	0.373																																																	0													101.0	75.0	83.0					6																	64431370		692	1590	2282	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8620A>C	6.37:g.64431370T>G	ENSP00000359655:p.Ile2874Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I2874L	ENST00000370621.3	37	c.8620		6	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871524	0.33069	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.76316	-1.01;-1.01;-1.01	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.149792	0.44097	U	0.000492	T	0.67144	0.2862	L	0.35542	1.07	0.80722	D	1	P;D	0.57899	0.94;0.981	P;P	0.58077	0.66;0.832	T	0.67452	-0.5667	10	0.27785	T	0.31	.	8.3681	0.32399	0.0:0.0898:0.0:0.9102	.	2853;2874	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	L	2853;2874;2874	ENSP00000424243:I2853L;ENSP00000359655:I2874L;ENSP00000359650:I2874L	ENSP00000359650:I2874L	I	-	1	0	EYS	64489329	0.997000	0.39634	0.996000	0.52242	0.603000	0.37013	0.940000	0.28992	1.780000	0.52325	0.473000	0.43528	ATA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.373	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	T	XM_294050		64431370	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.993	G
EYS	346007	genome.wustl.edu	37	6	64940607	64940607	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:64940607G>A	ENST00000370621.3	-	31	6828	c.6302C>T	c.(6301-6303)tCt>tTt	p.S2101F	EYS_ENST00000503581.1_Missense_Mutation_p.S2101F|EYS_ENST00000370616.2_Missense_Mutation_p.S2101F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2101	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGCACACAGAGGGTGCTGC	0.502																																																	0													105.0	97.0	100.0					6																	64940607		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6302C>T	6.37:g.64940607G>A	ENSP00000359655:p.Ser2101Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S2101F	ENST00000370621.3	37	c.6302		6	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874946	0.51695	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.83250	-1.7;-1.68;-1.68	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.82181	0.4981	L	0.39898	1.24	0.80722	D	1	D;D	0.61697	0.99;0.984	D;P	0.63192	0.912;0.819	T	0.81516	-0.0897	9	0.35671	T	0.21	.	14.9559	0.71113	0.0:0.0:1.0:0.0	.	2101;2101	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	F	2101	ENSP00000424243:S2101F;ENSP00000359655:S2101F;ENSP00000359650:S2101F	ENSP00000359650:S2101F	S	-	2	0	EYS	64998566	0.158000	0.22850	0.004000	0.12327	0.090000	0.18270	3.324000	0.52022	2.307000	0.77673	0.650000	0.86243	TCT	EYS	-	pfscan_EG-like_dom		0.502	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		64940607	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.029	A
FAHD2B	151313	genome.wustl.edu	37	2	97747859	97747859	+	IGR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:97747859C>T	ENST00000414820.1	-	0	1388							Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGGTGTGTTTCAAAAAGCTGC	0.577																																																	0																																										SO:0001628	intergenic_variant	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533		2.37:g.97747859C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXH7|Q8NDK1	RNA	SNP	-	NULL	ENST00000414820.1	37	NULL	CCDS2030.1	2																																																																																			FAHD2B	-	-		0.577	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	C	NM_199336		97747859	-1	no_errors	ENST00000443258	ensembl	human	known	70_37	rna	SNP	0.042	T
FAM171A1	221061	genome.wustl.edu	37	10	15290720	15290720	+	Silent	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:15290720G>T	ENST00000378116.4	-	5	678	c.672C>A	c.(670-672)atC>atA	p.I224I	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	224						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGTGACATAGATGGGACCAT	0.587																																																	0													97.0	86.0	90.0					10																	15290720		2203	4300	6503	SO:0001819	synonymous_variant	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.672C>A	10.37:g.15290720G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.I224	ENST00000378116.4	37	c.672	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171		0.587	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15290720	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	silent	SNP	0.996	T
FAM181A	90050	genome.wustl.edu	37	14	94391701	94391701	+	Silent	SNP	G	G	A	rs552387444		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:94391701G>A	ENST00000267594.5	+	2	391	c.84G>A	c.(82-84)gcG>gcA	p.A28A	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_5'Flank|FAM181A_ENST00000556222.1_5'Flank|FAM181A_ENST00000557719.1_Intron	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	28			A -> T (in dbSNP:rs10141024). {ECO:0000269|PubMed:14702039}.							cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAAAGGGCGAGCACAGCAA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21971	0.0		0.0	False		,,,				2504	0.0																0													76.0	69.0	71.0					14																	94391701		2203	4300	6503	SO:0001819	synonymous_variant	90050			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.84G>A	14.37:g.94391701G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD39|Q96GY1	Silent	SNP	NULL	p.A28	ENST00000267594.5	37	c.84	CCDS9914.1	14																																																																																			FAM181A	-	NULL		0.532	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	G	NM_138344		94391701	+1	no_errors	ENST00000267594	ensembl	human	known	70_37	silent	SNP	0.003	A
FAM184B	27146	genome.wustl.edu	37	4	17654508	17654508	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:17654508C>T	ENST00000265018.3	-	11	2348	c.2136G>A	c.(2134-2136)agG>agA	p.R712R		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	712										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GCAGCTCTTGCCTGGCCTTTT	0.592																																																	0													146.0	125.0	132.0					4																	17654508		692	1591	2283	SO:0001819	synonymous_variant	27146				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2136G>A	4.37:g.17654508C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.R712	ENST00000265018.3	37	c.2136	CCDS47033.1	4																																																																																			FAM184B	-	NULL		0.592	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	C	NM_015688		17654508	-1	no_errors	ENST00000265018	ensembl	human	known	70_37	silent	SNP	0.406	T
FAM186A	121006	genome.wustl.edu	37	12	50745808	50745808	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:50745808G>A	ENST00000327337.5	-	4	4806	c.4807C>T	c.(4807-4809)Ctc>Ttc	p.L1603F	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Missense_Mutation_p.L1603F	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1603																	TGAGGGGTGAGAGGGATCCCC	0.687																																					NSCLC(138;1796 1887 12511 19463 37884)												0													6.0	6.0	6.0					12																	50745808		663	1484	2147	SO:0001583	missense	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4807C>T	12.37:g.50745808G>A	ENSP00000329995:p.Leu1603Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L1603F	ENST00000327337.5	37	c.4807	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848811	0.32699	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04360	3.64;3.64	4.05	-3.42	0.04825	.	.	.	.	.	T	0.05731	0.0150	N	0.24115	0.695	0.09310	N	1	D;P	0.76494	0.999;0.835	D;P	0.80764	0.994;0.507	T	0.18524	-1.0334	9	0.09338	T	0.73	.	1.1269	0.01736	0.2369:0.1217:0.3926:0.2487	.	1603;1603	F5GYN0;A6NE01	.;F186A_HUMAN	F	1603	ENSP00000441337:L1603F;ENSP00000329995:L1603F	ENSP00000329995:L1603F	L	-	1	0	FAM186A	49032075	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.414000	0.01037	-0.881000	0.03992	-0.666000	0.03841	CTC	FAM186A	-	NULL		0.687	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	G	XM_001718353		50745808	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM209A	200232	genome.wustl.edu	37	20	55100944	55100944	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:55100944G>T	ENST00000371328.3	+	2	657	c.334G>T	c.(334-336)Gca>Tca	p.A112S	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	112						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CAAAGACTGTGCATTCAATAC	0.463																																																	0													113.0	107.0	109.0					20																	55100944		2203	4300	6503	SO:0001583	missense	200232			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.334G>T	20.37:g.55100944G>T	ENSP00000360379:p.Ala112Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05C43	Missense_Mutation	SNP	NULL	p.A112S	ENST00000371328.3	37	c.334	CCDS33493.1	20	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263327	0.05754	.	.	ENSG00000124103	ENST00000371328	T	0.10763	2.84	4.27	1.09	0.20402	.	0.443385	0.18686	N	0.134005	T	0.10423	0.0255	L	0.46157	1.445	0.09310	N	1	B	0.28760	0.221	B	0.31614	0.133	T	0.21211	-1.0252	10	0.44086	T	0.13	-1.9766	8.7587	0.34661	0.282:0.0:0.718:0.0	.	112	Q5JX71	CT106_HUMAN	S	112	ENSP00000360379:A112S	ENSP00000360379:A112S	A	+	1	0	C20orf106	54534351	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	0.718000	0.25866	-0.313000	0.08728	-1.465000	0.01017	GCA	FAM209A	-	NULL		0.463	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079815.2	G			55100944	+1	no_errors	ENST00000371328	ensembl	human	known	70_37	missense	SNP	0.001	T
FAM20B	9917	genome.wustl.edu	37	1	179033476	179033476	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:179033476G>A	ENST00000263733.4	+	6	1119	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	261						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ATGCTGTGAAGAAAACGTCCC	0.498																																																	0													234.0	189.0	204.0					1																	179033476		2203	4300	6503	SO:0001819	synonymous_variant	9917			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.783G>A	1.37:g.179033476G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0C3|Q5W0C4	Silent	SNP	pfam_DUF1193	p.K261	ENST00000263733.4	37	c.783	CCDS1328.1	1																																																																																			FAM20B	-	pfam_DUF1193		0.498	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	G	NM_014864		179033476	+1	no_errors	ENST00000263733	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM71A	149647	genome.wustl.edu	37	1	212799758	212799758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:212799758G>A	ENST00000294829.3	+	1	1970	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	513						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGAGCTTATGGACCACCAGTT	0.562																																																	0													76.0	63.0	67.0					1																	212799758		2203	4300	6503	SO:0001587	stop_gained	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1539G>A	1.37:g.212799758G>A	ENSP00000294829:p.Trp513*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTZ1	Nonsense_Mutation	SNP	pfam_DUF3699	p.W513*	ENST00000294829.3	37	c.1539	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.796538	0.96952	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	.	.	.	4.04	-8.09	0.01090	.	1.503790	0.05058	N	0.479388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.9567	0.3514	0.00349	0.212:0.2145:0.2236:0.3499	.	.	.	.	X	513;288	.	ENSP00000294829:W513X	W	+	3	0	FAM71A	210866381	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.123000	0.00594	-1.850000	0.01169	-1.080000	0.02220	TGG	FAM71A	-	NULL		0.562	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	G	NM_153606		212799758	+1	no_errors	ENST00000294829	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FAM83G	644815	genome.wustl.edu	37	17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	G			18907093	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FARP1	10160	genome.wustl.edu	37	13	98996094	98996094	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:98996094G>C	ENST00000319562.6	+	3	515	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	FARP1_ENST00000595437.1_Missense_Mutation_p.E84Q|FARP1_ENST00000376586.2_Missense_Mutation_p.E84Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	84	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTTGGCCTCGAGTTTCCTGA	0.502																																																	0													159.0	137.0	145.0					13																	98996094		2203	4300	6503	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.250G>C	13.37:g.98996094G>C	ENSP00000322926:p.Glu84Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E84Q	ENST00000319562.6	37	c.250	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238002	0.79800	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75821	-0.97;-0.97	4.58	4.58	0.56647	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.193144	0.44902	D	0.000406	T	0.72653	0.3487	N	0.10707	0.03	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;D	0.83275	0.996;0.918	T	0.76083	-0.3089	10	0.40728	T	0.16	.	14.6493	0.68784	0.0:0.0:1.0:0.0	.	84;84	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Q	84	ENSP00000365771:E84Q;ENSP00000322926:E84Q	ENSP00000322926:E84Q	E	+	1	0	FARP1	97794095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.509000	0.90529	2.279000	0.76181	0.484000	0.47621	GAG	FARP1	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.502	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	G	NM_005766		98996094	+1	no_errors	ENST00000376586	ensembl	human	known	70_37	missense	SNP	1.000	C
FAT1	2195	genome.wustl.edu	37	4	187516863	187516863	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:187516863G>A	ENST00000441802.2	-	26	13327	c.13118C>T	c.(13117-13119)tCc>tTc	p.S4373F	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4373					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACGATTCGGACTGGAAGGA	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													120.0	123.0	122.0					4																	187516863		2052	4207	6259	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13118C>T	4.37:g.187516863G>A	ENSP00000406229:p.Ser4373Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4373F	ENST00000441802.2	37	c.13118	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	18.12	3.551986	0.65311	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509927	T	0.77098	-1.07	5.34	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90355	0.4369	10	0.87932	D	0	.	16.2588	0.82530	0.0:0.1326:0.8674:0.0	.	4373	Q14517	FAT1_HUMAN	F	4373;4375;31	ENSP00000406229:S4373F	ENSP00000260147:S4375F	S	-	2	0	FAT1	187753857	1.000000	0.71417	0.868000	0.34077	0.370000	0.29829	9.601000	0.98297	1.470000	0.48102	0.650000	0.86243	TCC	FAT1	-	NULL		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187516863	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150928860	150928860	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:150928860C>T	ENST00000261800.5	-	8	4797	c.4785G>A	c.(4783-4785)ctG>ctA	p.L1595L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1595	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCACCTTTCAGGAGGGAGT	0.527																																																	0													36.0	33.0	34.0					5																	150928860		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4785G>A	5.37:g.150928860C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1595	ENST00000261800.5	37	c.4785	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150928860	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	silent	SNP	0.995	T
FAT4	79633	genome.wustl.edu	37	4	126241223	126241223	+	Silent	SNP	A	A	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:126241223A>T	ENST00000394329.3	+	1	3670	c.3657A>T	c.(3655-3657)atA>atT	p.I1219I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1219	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGCTACAATATCAGAATCAG	0.358																																																	0													43.0	42.0	42.0					4																	126241223		1841	4089	5930	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3657A>T	4.37:g.126241223A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1219	ENST00000394329.3	37	c.3657	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126241223	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.995	T
FBLIM1	54751	genome.wustl.edu	37	1	16111165	16111165	+	3'UTR	SNP	G	G	A	rs372175733		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16111165G>A	ENST00000375766.3	+	0	1771				FBLIM1_ENST00000400773.1_3'UTR|FBLIM1_ENST00000332305.5_3'UTR|FBLIM1_ENST00000375771.1_3'UTR|FBLIM1_ENST00000509138.1_3'UTR	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GAGAGTGCCCGCTGGGCAGTG	0.607																																																	0								G	,	0,4406		0,0,2203	86.0	85.0	85.0		,	-6.4	0.0	1		85	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,utr-3	FBLIM1	NM_001024216.1,NM_017556.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	,	16111165	2,13004	2203	4300	6503	SO:0001624	3_prime_UTR_variant	54751				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.*9G>A	1.37:g.16111165G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	RNA	SNP	-	NULL	ENST00000375766.3	37	NULL	CCDS163.1	1																																																																																			FBLIM1	-	-		0.607	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	HGNC	protein_coding	OTTHUMT00000008511.3	G	NM_001024215		16111165	+1	no_errors	ENST00000514156	ensembl	human	known	70_37	rna	SNP	0.000	A
FBRS	64319	genome.wustl.edu	37	16	30674116	30674116	+	5'Flank	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30674116C>T	ENST00000287468.5	+	0	0				FBRS_ENST00000395073.2_5'Flank|FBRS_ENST00000568722.1_5'UTR|FBRS_ENST00000356166.6_Missense_Mutation_p.R331W|FBRS_ENST00000482749.1_3'UTR	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin											ovary(1)	1			Colorectal(24;0.103)			GCTGCAGCTTCGGGTCTCACC	0.682																																																	0																																										SO:0001631	upstream_gene_variant	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390		16.37:g.30674116C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.R331W	ENST00000287468.5	37	c.991		16	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392847	0.62066	.	.	ENSG00000156860	ENST00000356166	T	0.44881	0.91	3.94	3.94	0.45596	.	36.253200	0.05832	U	0.617832	T	0.57681	0.2070	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	7	0.72032	D	0.01	-2.5891	13.9061	0.63836	0.0:1.0:0.0:0.0	.	.	.	.	W	331	ENSP00000348489:R331W	ENSP00000348489:R331W	R	+	1	2	FBRS	30581617	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.121000	0.31283	2.500000	0.84329	0.561000	0.74099	CGG	FBRS	-	NULL		0.682	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		C	NM_022452		30674116	+1	no_errors	ENST00000356166	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO25	26260	genome.wustl.edu	37	8	363141	363141	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:363141G>T	ENST00000276326.5	+	2	181	c.62G>T	c.(61-63)gGc>gTc	p.G21V	FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000382824.1_5'UTR|FBXO25_ENST00000350302.3_Missense_Mutation_p.G21V	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	21	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		ACAGAAGATGGCTGGAAGAGA	0.393																																																	0													135.0	144.0	141.0					8																	363141		2203	4300	6503	SO:0001583	missense	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.62G>T	8.37:g.363141G>T	ENSP00000276326:p.Gly21Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.G21V	ENST00000276326.5	37	c.62	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	.	17.22	3.334056	0.60853	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	T;T;T	0.24908	1.83;1.83;1.83	3.6	3.6	0.41247	.	0.055902	0.64402	D	0.000001	T	0.53190	0.1781	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61292	-0.7092	10	0.87932	D	0	-25.4566	11.0969	0.48150	0.0:0.0:1.0:0.0	.	21;21	Q8TCJ0-2;Q8TCJ0	.;FBX25_HUMAN	V	21	ENSP00000428872:G21V;ENSP00000342077:G21V;ENSP00000276326:G21V	ENSP00000276326:G21V	G	+	2	0	FBXO25	353141	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.898000	0.75676	1.745000	0.51790	0.298000	0.19748	GGC	FBXO25	-	NULL		0.393	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	G	NM_012173		363141	+1	no_errors	ENST00000276326	ensembl	human	known	70_37	missense	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40421422	40421422	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:40421422G>A	ENST00000221347.6	-	5	2506	c.2499C>T	c.(2497-2499)gtC>gtT	p.V833V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	833	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCGGCAGGTGACCTGATGGG	0.692																																																	0													18.0	16.0	16.0					19																	40421422		2202	4293	6495	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2499C>T	19.37:g.40421422G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.V833	ENST00000221347.6	37	c.2499	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWF_C		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40421422	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.585	A
FHAD1	114827	genome.wustl.edu	37	1	15627738	15627738	+	Missense_Mutation	SNP	G	G	A	rs531204038		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:15627738G>A	ENST00000375998.4	+	5	716	c.716G>A	c.(715-717)cGt>cAt	p.R239H	FHAD1_ENST00000375999.3_Missense_Mutation_p.R239H|FHAD1_ENST00000417793.1_Missense_Mutation_p.R239H|FHAD1_ENST00000358897.4_Missense_Mutation_p.R239H			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	239										skin(1)|stomach(1)	2						GAGGTCAGCCGTCTCTCAGAT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19114	0.0		0.0	False		,,,				2504	0.001																0													66.0	59.0	61.0					1																	15627738		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.716G>A	1.37:g.15627738G>A	ENSP00000365166:p.Arg239His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R239H	ENST00000375998.4	37	c.716		1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844833	0.71603	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998	T;T;T;T	0.80304	-1.27;-1.28;-1.36;-1.27	5.45	5.45	0.79879	.	0.000000	0.56097	D	0.000026	D	0.84520	0.5490	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85879	0.1421	10	0.72032	D	0.01	-7.6059	14.7955	0.69873	0.0:0.0:1.0:0.0	.	239	B1AJZ9	FHAD1_HUMAN	H	239	ENSP00000351770:R239H;ENSP00000407615:R239H;ENSP00000365167:R239H;ENSP00000365166:R239H	ENSP00000351770:R239H	R	+	2	0	FHAD1	15500325	0.891000	0.30450	0.983000	0.44433	0.519000	0.34347	2.874000	0.48483	2.572000	0.86782	0.650000	0.86243	CGT	FHAD1	-	NULL		0.473	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15627738	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	0.993	A
FCRL4	83417	genome.wustl.edu	37	1	157551335	157551335	+	Missense_Mutation	SNP	C	C	T	rs557777677		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:157551335C>T	ENST00000271532.1	-	7	1370	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	412					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTTCCTCCGACGCCAGCAGTG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19439	0.0		0.0	False		,,,				2504	0.0																0													73.0	63.0	66.0					1																	157551335		2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1235G>A	1.37:g.157551335C>T	ENSP00000271532:p.Arg412His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R412H	ENST00000271532.1	37	c.1235	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501567	0.26861	.	.	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-7.77	0.01227	.	1.080580	0.07301	N	0.874166	T	0.01695	0.0054	N	0.04880	-0.145	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.42172	-0.9467	10	0.15499	T	0.54	.	4.1549	0.10256	0.4271:0.209:0.0:0.3639	.	412	Q96PJ5	FCRL4_HUMAN	H	412	ENSP00000271532:R412H	ENSP00000271532:R412H	R	-	2	0	FCRL4	155817959	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	-2.755000	0.00789	-0.960000	0.03613	0.467000	0.42956	CGT	FCRL4	-	NULL		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	C	NM_031282		157551335	-1	no_errors	ENST00000271532	ensembl	human	known	70_37	missense	SNP	0.000	T
FHDC1	85462	genome.wustl.edu	37	4	153893649	153893649	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:153893649C>G	ENST00000511601.1	+	11	1527	c.1339C>G	c.(1339-1341)Cag>Gag	p.Q447E	FHDC1_ENST00000260008.3_Missense_Mutation_p.Q447E			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	447	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGAATGCTTTCAGATATTTAG	0.388																																																	0													108.0	111.0	110.0					4																	153893649		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1339C>G	4.37:g.153893649C>G	ENSP00000427567:p.Gln447Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.Q447E	ENST00000511601.1	37	c.1339	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327186	0.81690	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.15834	2.39;2.39	5.42	5.42	0.78866	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.463089	0.25851	N	0.027888	T	0.36799	0.0980	M	0.70275	2.135	0.44337	D	0.997229	D	0.58268	0.982	P	0.57283	0.817	T	0.03807	-1.1002	10	0.21540	T	0.41	.	19.2263	0.93819	0.0:1.0:0.0:0.0	.	447	Q9C0D6	FHDC1_HUMAN	E	447	ENSP00000427567:Q447E;ENSP00000260008:Q447E	ENSP00000260008:Q447E	Q	+	1	0	FHDC1	154113099	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.400000	0.59709	2.546000	0.85860	0.650000	0.86243	CAG	FHDC1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153893649	+1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	1.000	G
FHDC1	85462	genome.wustl.edu	37	4	153893681	153893681	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:153893681C>G	ENST00000511601.1	+	11	1559	c.1371C>G	c.(1369-1371)aaC>aaG	p.N457K	FHDC1_ENST00000260008.3_Missense_Mutation_p.N457K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	457	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCAAATTCAACAAAGCAGTTA	0.388																																																	0													114.0	116.0	115.0					4																	153893681		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1371C>G	4.37:g.153893681C>G	ENSP00000427567:p.Asn457Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.N457K	ENST00000511601.1	37	c.1371	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	3.732	-0.055298	0.07362	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.13538	2.58;2.58	5.42	4.46	0.54185	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.539042	0.21362	N	0.075793	T	0.09113	0.0225	N	0.25825	0.765	0.47862	D	0.999538	B	0.22800	0.075	B	0.26310	0.068	T	0.04307	-1.0961	10	0.02654	T	1	.	12.6777	0.56903	0.0:0.8899:0.0:0.1101	.	457	Q9C0D6	FHDC1_HUMAN	K	457	ENSP00000427567:N457K;ENSP00000260008:N457K	ENSP00000260008:N457K	N	+	3	2	FHDC1	154113131	0.998000	0.40836	1.000000	0.80357	0.920000	0.55202	0.590000	0.23954	2.546000	0.85860	0.650000	0.86243	AAC	FHDC1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.388	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	C	NM_033393		153893681	+1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	1.000	G
FIGN	55137	genome.wustl.edu	37	2	164468163	164468163	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:164468163G>A	ENST00000333129.3	-	3	493	c.179C>T	c.(178-180)tCt>tTt	p.S60F	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	60					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGTCAGAGCAGATATGTCATC	0.502																																																	0													142.0	138.0	139.0					2																	164468163		1988	4177	6165	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.179C>T	2.37:g.164468163G>A	ENSP00000333836:p.Ser60Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.S60F	ENST00000333129.3	37	c.179	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122503	0.77436	.	.	ENSG00000182263	ENST00000333129	T	0.36520	1.25	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.64994	0.2649	M	0.77313	2.365	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.64846	-0.6311	10	0.87932	D	0	-29.6263	20.8794	0.99867	0.0:0.0:1.0:0.0	.	60	Q5HY92	FIGN_HUMAN	F	60	ENSP00000333836:S60F	ENSP00000333836:S60F	S	-	2	0	FIGN	164176409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCT	FIGN	-	NULL		0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164468163	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	missense	SNP	1.000	A
FITM1	161247	genome.wustl.edu	37	14	24601589	24601589	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24601589G>A	ENST00000267426.5	+	2	725	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	146					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCTGCTCATCGAGGACCTGAC	0.701																																																	0													28.0	30.0	29.0					14																	24601589		2201	4298	6499	SO:0001583	missense	161247				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.436G>A	14.37:g.24601589G>A	ENSP00000267426:p.Glu146Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.E146K	ENST00000267426.5	37	c.436	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642211	0.67244	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	5.36	0.76844	.	0.123877	0.52532	D	0.000063	T	0.74831	0.3768	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	P	0.60473	0.875	T	0.71314	-0.4630	9	0.19147	T	0.46	-12.4599	16.5899	0.84762	0.0:0.0:1.0:0.0	.	146	A5D6W6	FITM1_HUMAN	K	146	.	ENSP00000267426:E146K	E	+	1	0	FITM1	23671429	1.000000	0.71417	0.999000	0.59377	0.741000	0.42261	8.366000	0.90111	2.506000	0.84524	0.462000	0.41574	GAG	FITM1	-	pfam_FIT		0.701	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1	G	NM_203402		24601589	+1	no_errors	ENST00000267426	ensembl	human	known	70_37	missense	SNP	1.000	A
FKBP10	60681	genome.wustl.edu	37	17	39977282	39977282	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:39977282G>A	ENST00000321562.4	+	8	1444	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y	FKBP10_ENST00000544340.1_Missense_Mutation_p.C220Y	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	447	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAGGGCATGTGTGTGGGAGAG	0.607																																																	0													15.0	16.0	15.0					17																	39977282		2196	4294	6490	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1340G>A	17.37:g.39977282G>A	ENSP00000317232:p.Cys447Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.C447Y	ENST00000321562.4	37	c.1340	CCDS11409.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.192772|5.192772	0.94960|0.94960	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340|ENST00000455106	D;D|.	0.85861|.	-2.04;-2.04|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84741|0.84741	0.5539|0.5539	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.86707|0.86707	0.1933|0.1933	10|5	0.52906|.	T|.	0.07|.	-27.1061|-27.1061	19.0913|19.0913	0.93228|0.93228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;447|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	Y|M	335;447;447;220|251	ENSP00000317232:C447Y;ENSP00000442009:C220Y|.	ENSP00000269598:C335Y|.	C|V	+|+	2|1	0|0	FKBP10|FKBP10	37230808|37230808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.642000|9.642000	0.98461|0.98461	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	TGT|GTG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.607	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39977282	+1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	1.000	A
FLG	2312	genome.wustl.edu	37	1	152281157	152281157	+	Nonsense_Mutation	SNP	G	G	A	rs141923137	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:152281157G>A	ENST00000368799.1	-	3	6240	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2069	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTCTGCTGATGGGGCCCA	0.557									Ichthyosis																																								0													355.0	289.0	311.0					1																	152281157		2203	4300	6503	SO:0001587	stop_gained	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6205C>T	1.37:g.152281157G>A	ENSP00000357789:p.Gln2069*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q2069*	ENST00000368799.1	37	c.6205	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	42	9.420636	0.99166	.	.	ENSG00000143631	ENST00000368799	.	.	.	1.82	-0.174	0.13319	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	4.0865	0.09950	0.4031:0.0:0.5969:0.0	.	.	.	.	X	2069	.	ENSP00000357789:Q2069X	Q	-	1	0	FLG	150547781	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.013000	0.01450	-0.031000	0.13781	0.485000	0.47835	CAG	FLG	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152281157	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FLG2	388698	genome.wustl.edu	37	1	152327647	152327647	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:152327647C>G	ENST00000388718.5	-	3	2687	c.2615G>C	c.(2614-2616)gGa>gCa	p.G872A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	872	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTGTTGTCCAAAGCCAGA	0.507																																																	0													363.0	313.0	330.0					1																	152327647		2200	4264	6464	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2615G>C	1.37:g.152327647C>G	ENSP00000373370:p.Gly872Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G872A	ENST00000388718.5	37	c.2615	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752252	0.15778	.	.	ENSG00000143520	ENST00000388718	T	0.06294	3.32	3.3	3.3	0.37823	.	.	.	.	.	T	0.05868	0.0153	M	0.72894	2.215	0.09310	N	1	D	0.67145	0.996	P	0.51701	0.677	T	0.29150	-1.0021	9	0.40728	T	0.16	1.529	6.3272	0.21251	0.0:0.8609:0.0:0.1391	.	872	Q5D862	FILA2_HUMAN	A	872	ENSP00000373370:G872A	ENSP00000373370:G872A	G	-	2	0	FLG2	150594271	0.000000	0.05858	0.006000	0.13384	0.017000	0.09413	0.269000	0.18589	1.676000	0.50930	0.650000	0.86243	GGA	FLG2	-	NULL		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		152327647	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.024	G
ZNF473	25888	genome.wustl.edu	37	19	50553866	50553866	+	IGR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50553866C>G	ENST00000595661.1	+	0	4828				CTD-2126E3.1_ENST00000527209.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTCAGATTCTCAAGCCCCTAT	0.607																																																	0																																										SO:0001628	intergenic_variant	400710			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7			19.37:g.50553866C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	RNA	SNP	-	NULL	ENST00000595661.1	37	NULL	CCDS33077.1	19																																																																																			CTD-2126E3.1	-	-		0.607	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLJ26850	Clone_based_vega_gene	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50553866	+1	no_errors	ENST00000527209	ensembl	human	known	70_37	rna	SNP	0.000	G
LINC01567	400511	genome.wustl.edu	37	16	24674572	24674572	+	lincRNA	SNP	G	G	A	rs369552236		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:24674572G>A	ENST00000414816.1	-	0	1077																											ggaaggatgcggattaaaaat	0.522																																																	0								G		0,1384		0,0,692	93.0	86.0	88.0			-3.8	0.0	16		88	7,3175		0,7,1584	no	intergenic				0,7,2276	AA,AG,GG		0.22,0.0,0.1533			24674572	7,4559	692	1591	2283			0																															16.37:g.24674572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000414816.1	37	NULL		16																																																																																			AC012317.1	-	-		0.522	AC012317.1-001	KNOWN	basic	lincRNA	FLJ45256	Clone_based_vega_gene	lincRNA	OTTHUMT00000254547.2	G			24674572	-1	no_errors	ENST00000414816	ensembl	human	known	70_37	rna	SNP	0.000	A
FLNA	2316	genome.wustl.edu	37	X	153590890	153590890	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153590890C>T	ENST00000369850.3	-	17	2697	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	FLNA_ENST00000344736.4_Missense_Mutation_p.D821N|FLNA_ENST00000422373.1_Missense_Mutation_p.D821N|FLNA_ENST00000360319.4_Missense_Mutation_p.D821N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	821					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTCGATGTCAGCTTCGGCG	0.617																																																	0													85.0	95.0	92.0					X																	153590890		2093	4188	6281	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2461G>A	X.37:g.153590890C>T	ENSP00000358866:p.Asp821Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D821N	ENST00000369850.3	37	c.2461	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358818	0.82353	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.13	5.13	0.70059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062126	0.64402	D	0.000013	D	0.91700	0.7376	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92664	0.6144	10	0.87932	D	0	.	17.9973	0.89188	0.0:1.0:0.0:0.0	.	821;821	P21333-2;P21333	.;FLNA_HUMAN	N	821;794;821;821;821	ENSP00000353467:D821N;ENSP00000416926:D821N;ENSP00000358866:D821N;ENSP00000358863:D821N	ENSP00000358863:D821N	D	-	1	0	FLNA	153244084	1.000000	0.71417	0.965000	0.40720	0.426000	0.31534	7.776000	0.85560	2.272000	0.75746	0.529000	0.55759	GAC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153590890	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T
FLNB	2317	genome.wustl.edu	37	3	58135868	58135868	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:58135868G>A	ENST00000295956.4	+	38	6446	c.6281G>A	c.(6280-6282)aGa>aAa	p.R2094K	FLNB_ENST00000419752.2_Missense_Mutation_p.R1914K|FLNB_ENST00000490882.1_Missense_Mutation_p.R2125K|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000358537.3_Missense_Mutation_p.R2070K|FLNB_ENST00000429972.2_Missense_Mutation_p.R2083K|FLNB_ENST00000493452.1_Missense_Mutation_p.R1901K|FLNB_ENST00000357272.4_Missense_Mutation_p.R2094K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2094	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGGAGGGAAGAGTCAAAGAG	0.587																																																	0													124.0	127.0	126.0					3																	58135868		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6281G>A	3.37:g.58135868G>A	ENSP00000295956:p.Arg2094Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2094K	ENST00000295956.4	37	c.6281	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.749089	0.96882	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86769	-2.1;-2.13;-2.1;-2.1;-2.17;-1.85;-1.86	6.17	6.17	0.99709	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.68593	2.085	0.80722	D	1	P;B;D;B;P;P	0.55605	0.941;0.32;0.972;0.173;0.95;0.95	P;P;D;B;D;D	0.79108	0.893;0.631;0.992;0.128;0.992;0.992	D	0.91164	0.4963	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2070;2125;1901;1914;2083;2094	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	2094;2125;2070;2083;2094;1901;1914	ENSP00000295956:R2094K;ENSP00000420213:R2125K;ENSP00000351339:R2070K;ENSP00000415599:R2083K;ENSP00000349819:R2094K;ENSP00000418510:R1901K;ENSP00000414532:R1914K	ENSP00000295956:R2094K	R	+	2	0	FLNB	58110908	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.756000	0.98918	2.941000	0.99782	0.655000	0.94253	AGA	FLNB	-	superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	G	NM_001457		58135868	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	A
FMN2	56776	genome.wustl.edu	37	1	240256841	240256841	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:240256841G>A	ENST00000319653.9	+	1	1662	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	478					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTTGCGGCCGGCCTGAGCCG	0.761																																																	0													7.0	10.0	9.0					1																	240256841		2091	4059	6150	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1432G>A	1.37:g.240256841G>A	ENSP00000318884:p.Gly478Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G478S	ENST00000319653.9	37	c.1432	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928885	0.52759	.	.	ENSG00000155816	ENST00000319653	T	0.80033	-1.33	4.04	4.04	0.47022	.	0.509560	0.18286	N	0.145875	T	0.80171	0.4574	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.76358	-0.2988	10	0.30078	T	0.28	.	10.1216	0.42623	0.0926:0.0:0.9074:0.0	.	478	Q9NZ56	FMN2_HUMAN	S	478	ENSP00000318884:G478S	ENSP00000318884:G478S	G	+	1	0	FMN2	238323464	0.994000	0.37717	0.912000	0.35992	0.916000	0.54674	2.489000	0.45285	2.080000	0.62538	0.563000	0.77884	GGC	FMN2	-	NULL		0.761	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240256841	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.996	A
FREM1	158326	genome.wustl.edu	37	9	14859349	14859349	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:14859349C>T	ENST00000380880.3	-	4	1246	c.463G>A	c.(463-465)Gat>Aat	p.D155N	FREM1_ENST00000422223.2_Missense_Mutation_p.D155N|FREM1_ENST00000380881.4_Missense_Mutation_p.D155N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	155					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGATTTTTATCAATCGCTTGG	0.488																																																	0													132.0	130.0	131.0					9																	14859349		1904	4125	6029	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.463G>A	9.37:g.14859349C>T	ENSP00000370262:p.Asp155Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.D155N	ENST00000380880.3	37	c.463	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807546	0.50421	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.18502	2.22;2.21;2.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.69248	2.105	0.51767	D	0.999932	B	0.32893	0.389	B	0.31442	0.13	T	0.01159	-1.1433	10	0.39692	T	0.17	-20.3095	14.2654	0.66113	0.0:0.9291:0.0:0.0709	.	155	Q5H8C1	FREM1_HUMAN	N	155	ENSP00000370263:D155N;ENSP00000412940:D155N;ENSP00000370262:D155N	ENSP00000370257:D155N	D	-	1	0	FREM1	14849349	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	5.460000	0.66691	2.756000	0.94617	0.561000	0.74099	GAT	FREM1	-	NULL		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	C	NM_144966		14859349	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20929372	20929372	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:20929372G>A	ENST00000380249.1	+	29	3458	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	FOCAD_ENST00000605086.1_Missense_Mutation_p.E468K|FOCAD_ENST00000338382.6_Missense_Mutation_p.E1032K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1032						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTATTCTGGTGAAAACACAGC	0.438																																																	0													88.0	84.0	86.0					9																	20929372		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3094G>A	9.37:g.20929372G>A	ENSP00000369599:p.Glu1032Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.E1032K	ENST00000380249.1	37	c.3094	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.421162	0.96111	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08282	3.11;3.11	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00119	-1.2032	10	0.59425	D	0.04	-11.1249	20.3736	0.98901	0.0:0.0:1.0:0.0	.	1032	Q5VW36	K1797_HUMAN	K	1032	ENSP00000369599:E1032K;ENSP00000344307:E1032K	ENSP00000344307:E1032K	E	+	1	0	KIAA1797	20919372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.339000	0.79282	2.820000	0.97059	0.650000	0.86243	GAA	FOCAD	-	superfamily_ARM-type_fold		0.438	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20929372	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	A
FRG1	2483	genome.wustl.edu	37	4	190882046	190882046	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:190882046C>T	ENST00000226798.4	+	7	851				FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAGTGCTTCTCAAAGTGCTTT	0.403																																																	0													6.0	7.0	7.0					4																	190882046		1309	2272	3581	SO:0001627	intron_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.629+52C>T	4.37:g.190882046C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K775	RNA	SNP	-	NULL	ENST00000226798.4	37	NULL	CCDS34121.1	4																																																																																			FRG1	-	-		0.403	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	C	NM_004477		190882046	+1	no_errors	ENST00000514482	ensembl	human	known	70_37	rna	SNP	0.132	T
FRMPD3	84443	genome.wustl.edu	37	X	106788902	106788902	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:106788902G>A	ENST00000276185.4	+	6	396				FRMPD3-AS1_ENST00000415252.1_RNA|FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3							cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTTAACTCTGACGTGACAAA	0.403																																																	0																																										SO:0001627	intron_variant	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.397-65G>A	X.37:g.106788902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JK8	RNA	SNP	-	NULL	ENST00000276185.4	37	NULL		X																																																																																			FRMPD3	-	-		0.403	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		G	XM_042978		106788902	+1	no_errors	ENST00000477796	ensembl	human	known	70_37	rna	SNP	0.000	A
GAA	2548	genome.wustl.edu	37	17	78086747	78086747	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:78086747C>T	ENST00000302262.3	+	14	2180	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L	GAA_ENST00000390015.3_Missense_Mutation_p.S654L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	654					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGCAACACCTCAGAGGAGCTG	0.642																																																	0													18.0	20.0	20.0					17																	78086747		2201	4299	6500	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1961C>T	17.37:g.78086747C>T	ENSP00000305692:p.Ser654Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S654L	ENST00000302262.3	37	c.1961	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584276	0.65992	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93547	-3.24;-3.24	4.9	4.9	0.64082	Glycoside hydrolase, superfamily (1);	0.226751	0.36555	N	0.002534	D	0.95211	0.8447	M	0.85630	2.765	0.09310	N	1	B	0.30727	0.292	B	0.43155	0.41	D	0.91193	0.4985	10	0.72032	D	0.01	-16.485	13.789	0.63128	0.1541:0.8459:0.0:0.0	.	654	P10253	LYAG_HUMAN	L	654	ENSP00000305692:S654L;ENSP00000374665:S654L	ENSP00000305692:S654L	S	+	2	0	GAA	75701342	0.000000	0.05858	0.226000	0.23910	0.950000	0.60333	1.115000	0.31209	2.257000	0.74773	0.561000	0.74099	TCA	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.642	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	C			78086747	+1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	0.003	T
GCFC2	6936	genome.wustl.edu	37	2	75891851	75891851	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:75891851C>T	ENST00000321027.3	-	17	2420	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	RP11-342K6.1_ENST00000604845.1_RNA|GCFC2_ENST00000409857.3_Missense_Mutation_p.E725K|GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	763					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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 negative regulation of transcription (GO:0001078)										ATGAAGGATTCTGCTTGATTC	0.279																																																	0													80.0	83.0	82.0					2																	75891851		2203	4300	6503	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2287G>A	2.37:g.75891851C>T	ENSP00000318690:p.Glu763Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.E763K	ENST00000321027.3	37	c.2287	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428205	0.43122	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.48522	2.38;2.4;0.81	4.71	2.91	0.33838	.	0.490245	0.20109	N	0.099047	T	0.37972	0.1023	M	0.63843	1.955	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.12400	-1.0549	10	0.07644	T	0.81	-14.5822	7.8933	0.29691	0.0:0.8022:0.0:0.1978	.	763	P16383	GCF_HUMAN	K	763;725;181	ENSP00000318690:E763K;ENSP00000386552:E725K;ENSP00000409340:E181K	ENSP00000318690:E763K	E	-	1	0	C2orf3	75745359	0.647000	0.27304	1.000000	0.80357	0.963000	0.63663	0.566000	0.23593	0.678000	0.31325	-0.444000	0.05651	GAA	GCFC2	-	NULL		0.279	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	C	NM_003203		75891851	-1	no_errors	ENST00000321027	ensembl	human	known	70_37	missense	SNP	1.000	T
GCC2	9648	genome.wustl.edu	37	2	109109062	109109062	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:109109062G>A	ENST00000309863.6	+	19	4977	c.4263G>A	c.(4261-4263)atG>atA	p.M1421I		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1421					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACATGATGATGAAATCTGAAC	0.398																																																	0													95.0	79.0	84.0					2																	109109062		2203	4300	6503	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4263G>A	2.37:g.109109062G>A	ENSP00000307939:p.Met1421Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.M1421I	ENST00000309863.6	37	c.4263	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386980	0.42308	.	.	ENSG00000135968	ENST00000309863	T	0.31769	1.48	5.41	4.53	0.55603	.	0.675409	0.15934	N	0.237512	T	0.16938	0.0407	N	0.19112	0.55	0.36233	D	0.852788	B	0.17465	0.022	B	0.11329	0.006	T	0.14811	-1.0459	10	0.14656	T	0.56	.	6.6021	0.22707	0.0701:0.128:0.6694:0.1324	.	1421	Q8IWJ2	GCC2_HUMAN	I	1421	ENSP00000307939:M1421I	ENSP00000307939:M1421I	M	+	3	0	GCC2	108475494	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	2.832000	0.48152	1.415000	0.47037	0.655000	0.94253	ATG	GCC2	-	NULL		0.398	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	G	NM_014635		109109062	+1	no_errors	ENST00000309863	ensembl	human	known	70_37	missense	SNP	1.000	A
GCNT2	2651	genome.wustl.edu	37	6	10556959	10556959	+	Intron	SNP	C	C	G	rs569056707		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:10556959C>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.I101M			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TAATGGTCATCCATCATCACT	0.413																																																	0													105.0	98.0	101.0					6																	10556959		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26890C>G	6.37:g.10556959C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_14	p.I101M	ENST00000379597.3	37	c.303	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520954	0.44866	.	.	ENSG00000111846	ENST00000316170	T	0.12569	2.67	4.89	3.96	0.45880	.	.	.	.	.	T	0.10465	0.0256	M	0.67625	2.065	0.80722	D	1	P	0.41848	0.763	B	0.42163	0.378	T	0.01697	-1.1293	9	0.51188	T	0.08	.	10.6483	0.45634	0.1258:0.6487:0.2256:0.0	.	101	Q06430	GNT2B_HUMAN	M	101	ENSP00000314844:I101M	ENSP00000314844:I101M	I	+	3	3	GCNT2	10664945	0.056000	0.20664	1.000000	0.80357	0.983000	0.72400	-0.771000	0.04699	2.408000	0.81797	0.655000	0.94253	ATC	GCNT2	-	pfam_Glyco_trans_14		0.413	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	C	NM_145649		10556959	+1	no_errors	ENST00000316170	ensembl	human	known	70_37	missense	SNP	1.000	G
GDF5OS	554250	genome.wustl.edu	37	20	34022687	34022687	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:34022687C>G	ENST00000374375.1	+	2	1173	c.731C>G	c.(730-732)tCt>tGt	p.S244C	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	244						mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						AGAGAGCTTTCTTTCACCTCT	0.547																																																	0																																										SO:0001583	missense	554250			BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.731C>G	20.37:g.34022687C>G	ENSP00000363495:p.Ser244Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVI8	Missense_Mutation	SNP	NULL	p.S244C	ENST00000374375.1	37	c.731		20	.	.	.	.	.	.	.	.	.	.	C	2.027	-0.423420	0.04734	.	.	ENSG00000204183	ENST00000374375	.	.	.	4.75	3.73	0.42828	.	.	.	.	.	T	0.71221	0.3314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74309	-0.3707	5	0.87932	D	0	.	12.1557	0.54074	0.1714:0.8286:0.0:0.0	.	.	.	.	C	244	.	ENSP00000363495:S244C	S	+	2	0	GDF5OS	33486101	0.000000	0.05858	0.274000	0.24659	0.058000	0.15608	0.278000	0.18753	2.615000	0.88500	0.561000	0.74099	TCT	GDF5OS	-	NULL		0.547	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	GDF5OS	HGNC	protein_coding	OTTHUMT00000125987.3	C			34022687	+1	no_errors	ENST00000374375	ensembl	human	known	70_37	missense	SNP	0.961	G
GEMIN8	54960	genome.wustl.edu	37	X	14027161	14027161	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:14027161C>T	ENST00000380523.4	-	5	918	c.600G>A	c.(598-600)gaG>gaA	p.E200E	GEMIN8_ENST00000398355.3_Silent_p.E200E	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	200					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						AACGCTTCATCTCGGCCTGGC	0.612																																																	0													81.0	75.0	77.0					X																	14027161		2203	4300	6503	SO:0001819	synonymous_variant	54960			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.600G>A	X.37:g.14027161C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C4AMC4|Q2LJ66|Q6ZV27	Silent	SNP	NULL	p.E200	ENST00000380523.4	37	c.600	CCDS14159.1	X																																																																																			GEMIN8	-	NULL		0.612	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN8	HGNC	protein_coding	OTTHUMT00000055815.1	C	NM_017856		14027161	-1	no_errors	ENST00000380523	ensembl	human	known	70_37	silent	SNP	1.000	T
GGT7	2686	genome.wustl.edu	37	20	33460525	33460525	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:33460525C>T	ENST00000336431.5	-	1	138	c.94G>A	c.(94-96)Gag>Aag	p.E32K	ACSS2_ENST00000336325.4_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	32					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTCGTCCTCGGGCAGCCGC	0.731																																																	0													5.0	7.0	6.0					20																	33460525		2073	4040	6113	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.94G>A	20.37:g.33460525C>T	ENSP00000338964:p.Glu32Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E32K	ENST00000336431.5	37	c.94	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	C	34	5.359313	0.95854	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.46063	3.27;0.88	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.98;0.97	T	0.65434	-0.6169	10	0.87932	D	0	.	16.4704	0.84109	0.0:1.0:0.0:0.0	.	32;32;32	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	K	32	ENSP00000338964:E32K;ENSP00000394993:E32K	ENSP00000338964:E32K	E	-	1	0	GGT7	32924186	1.000000	0.71417	0.970000	0.41538	0.809000	0.45718	7.063000	0.76714	2.202000	0.70862	0.313000	0.20887	GAG	GGT7	-	NULL		0.731	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	C	NM_178026		33460525	-1	no_errors	ENST00000336431	ensembl	human	novel	70_37	missense	SNP	1.000	T
GGTA1P	2681	genome.wustl.edu	37	9	124241356	124241356	+	RNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:124241356G>A	ENST00000495328.1	-	0	364							Q4G0N0	GGTA1_HUMAN	glycoprotein, alpha-galactosyltransferase 1 pseudogene						glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|protein galactosylation at cell surface (GO:0033580)	anchored component of external side of plasma membrane (GO:0031362)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|transferase activity, transferring hexosyl groups (GO:0016758)										TGAAGTCCCTGAGCCGGCATC	0.542																																																	0																																												2681					9q33.2	2011-05-04	2010-03-19	2011-05-04	ENSG00000204136	ENSG00000204136			4253	pseudogene	pseudogene		104175	"""glycoprotein, alpha-galactosyltransferase 1"""	GLYT2, GGTA, GGTA1		1559713, 2108966	Standard	NR_003191		Approved		uc004bll.1	Q4G0N0	OTTHUMG00000020592		9.37:g.124241356G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2JVH9	RNA	SNP	-	NULL	ENST00000495328.1	37	NULL		9																																																																																			GGTA1P	-	-		0.542	GGTA1P-003	KNOWN	basic	processed_transcript	GGTA1P	HGNC	pseudogene	OTTHUMT00000337174.1	G	NR_003191		124241356	-1	no_errors	ENST00000373793	ensembl	human	known	70_37	rna	SNP	0.008	A
GHR	2690	genome.wustl.edu	37	5	42718806	42718806	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:42718806C>T	ENST00000230882.4	+	10	1387	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Silent_p.F212F|GHR_ENST00000357703.3_Silent_p.F377F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	399					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTGATTTCAATGCCAATG	0.458																																																	0													131.0	104.0	114.0					5																	42718806		2203	4300	6503	SO:0001819	synonymous_variant	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1197C>T	5.37:g.42718806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.F399	ENST00000230882.4	37	c.1197	CCDS3940.1	5																																																																																			GHR	-	NULL		0.458	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42718806	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	silent	SNP	0.995	T
GHR	2690	genome.wustl.edu	37	5	42719029	42719029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:42719029C>T	ENST00000230882.4	+	10	1610	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	GHR_ENST00000537449.1_Nonsense_Mutation_p.Q287*|GHR_ENST00000357703.3_Nonsense_Mutation_p.Q452*	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	474					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGCCCATATTCAGCTAAGCAA	0.493																																																	0													68.0	64.0	65.0					5																	42719029		2203	4300	6503	SO:0001587	stop_gained	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1420C>T	5.37:g.42719029C>T	ENSP00000230882:p.Gln474*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HCX2	Nonsense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q474*	ENST00000230882.4	37	c.1420	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.763698	0.96906	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	.	.	.	5.98	5.98	0.97165	.	0.334797	0.36854	N	0.002375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.2564	15.2005	0.73132	0.1408:0.8592:0.0:0.0	.	.	.	.	X	474;452;287	.	ENSP00000230882:Q474X	Q	+	1	0	GHR	42754786	1.000000	0.71417	0.849000	0.33467	0.987000	0.75469	4.713000	0.61895	2.838000	0.97847	0.591000	0.81541	CAG	GHR	-	NULL		0.493	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	C	NM_000163		42719029	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	nonsense	SNP	0.988	T
GIF	2694	genome.wustl.edu	37	11	59611401	59611401	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:59611401C>T	ENST00000257248.2	-	2	254	c.207G>A	c.(205-207)ttG>ttA	p.L69L	GIF_ENST00000541311.1_Silent_p.L44L	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	69					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TCTGGGCCTTCAAGTTGTAGG	0.517																																					NSCLC(53;1139 1245 16872 38474 42853)												0													104.0	91.0	95.0					11																	59611401		2201	4295	6496	SO:0001819	synonymous_variant	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.207G>A	11.37:g.59611401C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAN8|B4DVZ1	Silent	SNP	pfam_Cbl-bd_transpt_euk	p.L69	ENST00000257248.2	37	c.207	CCDS7977.1	11																																																																																			GIF	-	pfam_Cbl-bd_transpt_euk		0.517	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	C	NM_005142		59611401	-1	no_errors	ENST00000257248	ensembl	human	known	70_37	silent	SNP	0.563	T
GLA	2717	genome.wustl.edu	37	X	100662883	100662883	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:100662883C>T	ENST00000218516.3	-	1	30	c.9G>A	c.(7-9)ctG>ctA	p.L3L	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron|HNRNPH2_ENST00000316594.5_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	3					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTGGGTTCCTCAGCTGCATTG	0.547																																					Colon(193;776 2816 31189 44474)												0													59.0	55.0	56.0					X																	100662883		2203	4300	6503	SO:0001819	synonymous_variant	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.9G>A	X.37:g.100662883C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.L3	ENST00000218516.3	37	c.9	CCDS14484.1	X																																																																																			GLA	-	NULL		0.547	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100662883	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	silent	SNP	0.000	T
GLT8D2	83468	genome.wustl.edu	37	12	104393268	104393268	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:104393268C>G	ENST00000360814.4	-	6	714	c.309G>C	c.(307-309)ctG>ctC	p.L103L	GLT8D2_ENST00000548660.1_Silent_p.L103L|GLT8D2_ENST00000546436.1_Silent_p.L103L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	103						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTATTTCTCTCAGTTTGGAAT	0.403																																																	0													140.0	140.0	140.0					12																	104393268		2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.309G>C	12.37:g.104393268C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96KA2	Silent	SNP	pfam_Glyco_trans_8	p.L103	ENST00000360814.4	37	c.309	CCDS9096.1	12																																																																																			GLT8D2	-	pfam_Glyco_trans_8		0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104393268	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	silent	SNP	1.000	G
GMEB1	10691	genome.wustl.edu	37	1	29040885	29040885	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:29040885C>T	ENST00000294409.2	+	10	1412	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	GMEB1_ENST00000361872.4_Missense_Mutation_p.S431F|GMEB1_ENST00000373816.1_Missense_Mutation_p.S431F|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	441					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGCCTTCTGGCCCTCAG	0.577																																																	0													113.0	88.0	96.0					1																	29040885		2203	4300	6503	SO:0001583	missense	10691			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1322C>T	1.37:g.29040885C>T	ENSP00000294409:p.Ser441Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.S441F	ENST00000294409.2	37	c.1322	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091723	0.76756	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.60424	0.19;0.19;0.19	5.75	5.75	0.90469	.	0.071837	0.64402	D	0.000019	T	0.65698	0.2716	L	0.50333	1.59	0.34245	D	0.678133	D;D	0.61080	0.989;0.989	P;P	0.53912	0.737;0.737	T	0.75838	-0.3176	10	0.87932	D	0	-4.1599	16.8601	0.86016	0.0:1.0:0.0:0.0	.	441;431	Q9Y692;B1AT47	GMEB1_HUMAN;.	F	431;431;441	ENSP00000362922:S431F;ENSP00000355186:S431F;ENSP00000294409:S441F	ENSP00000294409:S441F	S	+	2	0	GMEB1	28913472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.182000	0.71995	2.716000	0.92895	0.655000	0.94253	TCT	GMEB1	-	NULL		0.577	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	C	NM_006582		29040885	+1	no_errors	ENST00000294409	ensembl	human	known	70_37	missense	SNP	1.000	T
GMNN	51053	genome.wustl.edu	37	6	24781754	24781754	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:24781754C>G	ENST00000230056.3	+	4	511	c.179C>G	c.(178-180)tCt>tGt	p.S60C	GMNN_ENST00000356509.3_Missense_Mutation_p.S60C	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	60			S -> P (in dbSNP:rs2307302).		mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CACTTAACATCTACAACTTCC	0.373																																																	0													55.0	59.0	58.0					6																	24781754		2203	4300	6503	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.179C>G	6.37:g.24781754C>G	ENSP00000230056:p.Ser60Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	pfam_Geminin_fam	p.S60C	ENST00000230056.3	37	c.179	CCDS4560.1	6	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797044	0.70567	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000476555;ENST00000378059	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.49	4.63	0.57726	.	0.400098	0.30501	N	0.009483	T	0.25975	0.0633	M	0.79475	2.455	0.23320	N	0.997918	D	0.55172	0.97	P	0.59948	0.866	T	0.08806	-1.0704	10	0.72032	D	0.01	-24.2853	13.4935	0.61411	0.0:0.9248:0.0:0.0752	.	60	O75496	GEMI_HUMAN	C	60	ENSP00000348902:S60C;ENSP00000230056:S60C;ENSP00000367293:S60C;ENSP00000419584:S60C;ENSP00000367298:S60C	ENSP00000230056:S60C	S	+	2	0	GMNN	24889733	0.119000	0.22226	0.520000	0.27837	0.890000	0.51754	3.074000	0.50065	1.456000	0.47831	0.655000	0.94253	TCT	GMNN	-	pfam_Geminin_fam		0.373	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	C	NM_015895		24781754	+1	no_errors	ENST00000230056	ensembl	human	known	70_37	missense	SNP	0.397	G
GNAT2	2780	genome.wustl.edu	37	1	110149024	110149024	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:110149024C>G	ENST00000351050.3	-	5	682	c.496G>C	c.(496-498)Gag>Cag	p.E166Q		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	166					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGGAGGTACTCAGGGTCTGTA	0.423																																																	0													138.0	127.0	131.0					1																	110149024		2203	4300	6503	SO:0001583	missense	2780			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.496G>C	1.37:g.110149024C>G	ENSP00000251337:p.Glu166Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E166Q	ENST00000351050.3	37	c.496	CCDS803.1	1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257190	0.22965	.	.	ENSG00000134183	ENST00000351050	T	0.44881	0.91	5.19	-0.618	0.11576	G protein alpha subunit, helical insertion (2);	0.384560	0.30658	N	0.009155	T	0.13628	0.0330	N	0.25789	0.76	0.09310	N	0.999995	B	0.20164	0.042	B	0.28305	0.088	T	0.34428	-0.9829	10	0.72032	D	0.01	.	10.9764	0.47469	0.0:0.4772:0.0:0.5228	.	166	P19087	GNAT2_HUMAN	Q	166	ENSP00000251337:E166Q	ENSP00000251337:E166Q	E	-	1	0	GNAT2	109950547	0.004000	0.15560	0.577000	0.28562	0.216000	0.24613	0.306000	0.19279	-0.172000	0.10779	-0.140000	0.14226	GAG	GNAT2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.423	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	C	NM_005272		110149024	-1	no_errors	ENST00000351050	ensembl	human	known	70_37	missense	SNP	0.215	G
GNPAT	8443	genome.wustl.edu	37	1	231408083	231408083	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:231408083C>T	ENST00000366647.4	+	11	1717	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	GNPAT_ENST00000366646.3_Silent_p.F455F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	516					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTTCGCTTCCTACGTGATG	0.388																																																	0													304.0	287.0	293.0					1																	231408083		2203	4300	6503	SO:0001819	synonymous_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1548C>T	1.37:g.231408083C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.F516	ENST00000366647.4	37	c.1548	CCDS1592.1	1																																																																																			GNPAT	-	NULL		0.388	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	C			231408083	+1	no_errors	ENST00000366647	ensembl	human	known	70_37	silent	SNP	1.000	T
GOLGA1	2800	genome.wustl.edu	37	9	127642418	127642418	+	3'UTR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:127642418C>G	ENST00000373555.4	-	0	3028					NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1						protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GGCACCATCTCAAAGGGCCGT	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.*391G>C	9.37:g.127642418C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T164|Q8IYZ9	RNA	SNP	-	NULL	ENST00000373555.4	37	NULL	CCDS6860.1	9																																																																																			GOLGA1	-	-		0.527	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127642418	-1	no_errors	ENST00000475407	ensembl	human	known	70_37	rna	SNP	0.001	G
GOLGA2P5	55592	genome.wustl.edu	37	12	100562865	100562865	+	RNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:100562865C>T	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						TACTTCCTCACTCTGAATCAC	0.393																																																	0																																												55592																															12.37:g.100562865C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-		0.393	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	C			100562865	-1	no_errors	ENST00000421840	ensembl	human	known	70_37	rna	SNP	0.385	T
GON4L	54856	genome.wustl.edu	37	1	155735213	155735213	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735213C>G	ENST00000368331.1	-	21	4099	c.4051G>C	c.(4051-4053)Gaa>Caa	p.E1351Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E1351Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1351Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E1351Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1351					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACAGCATGTTCCACTTTGATG	0.483																																																	0													130.0	125.0	127.0					1																	155735213		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4051G>C	1.37:g.155735213C>G	ENSP00000357315:p.Glu1351Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1351Q	ENST00000368331.1	37	c.4051		1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917180	0.73098	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.24723	2.61;2.61;2.61;1.84	5.23	5.23	0.72850	.	0.277048	0.30752	N	0.008951	T	0.32585	0.0834	L	0.54323	1.7	0.26018	N	0.981906	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.87578	0.957;0.995;0.996;0.998	T	0.07065	-1.0792	10	0.52906	T	0.07	.	11.9828	0.53129	0.0:0.9204:0.0:0.0796	.	1351;547;1351;1351	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1351	ENSP00000396117:E1351Q;ENSP00000357315:E1351Q;ENSP00000271883:E1351Q;ENSP00000354322:E1351Q	ENSP00000271883:E1351Q	E	-	1	0	GON4L	154001837	0.943000	0.32029	0.086000	0.20670	0.003000	0.03518	3.076000	0.50081	2.719000	0.93026	0.655000	0.94253	GAA	GON4L	-	NULL		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735213	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.879	G
GON4L	54856	genome.wustl.edu	37	1	155735229	155735229	+	Silent	SNP	A	A	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735229A>G	ENST00000368331.1	-	21	4083	c.4035T>C	c.(4033-4035)tgT>tgC	p.C1345C	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.C1345C|GON4L_ENST00000361040.5_Silent_p.C1345C|GON4L_ENST00000271883.5_Silent_p.C1345C	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1345					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGATGTCATCACAAATATCAC	0.473																																																	0													121.0	117.0	118.0					1																	155735229		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4035T>C	1.37:g.155735229A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.C1345	ENST00000368331.1	37	c.4035		1																																																																																			GON4L	-	NULL		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		A	NM_032292		155735229	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	0.005	G
GON4L	54856	genome.wustl.edu	37	1	155735273	155735273	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155735273C>G	ENST00000368331.1	-	21	4039	c.3991G>C	c.(3991-3993)Gaa>Caa	p.E1331Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E1331Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1331Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E1331Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1331					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCTAGCTTCTTCAGGTTCC	0.522																																																	0													100.0	95.0	97.0					1																	155735273		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3991G>C	1.37:g.155735273C>G	ENSP00000357315:p.Glu1331Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1331Q	ENST00000368331.1	37	c.3991		1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815463	0.32145	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.13538	2.85;2.85;2.85;2.58	5.03	5.03	0.67393	.	0.323372	0.29892	N	0.010937	T	0.04497	0.0123	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23540	0.076;0.087;0.041;0.068	B;B;B;B	0.29267	0.054;0.085;0.046;0.1	T	0.28396	-1.0045	10	0.72032	D	0.01	.	14.6554	0.68828	0.0:0.8539:0.1461:0.0	.	1331;527;1331;1331	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1331	ENSP00000396117:E1331Q;ENSP00000357315:E1331Q;ENSP00000271883:E1331Q;ENSP00000354322:E1331Q	ENSP00000271883:E1331Q	E	-	1	0	GON4L	154001897	0.950000	0.32346	0.266000	0.24541	0.286000	0.27126	4.877000	0.63086	2.613000	0.88420	0.650000	0.86243	GAA	GON4L	-	NULL		0.522	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155735273	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.372	G
GPR101	83550	genome.wustl.edu	37	X	136113007	136113007	+	Missense_Mutation	SNP	C	C	G	rs140547587	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136113007C>G	ENST00000298110.1	-	1	826	c.827G>C	c.(826-828)aGa>aCa	p.R276T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCTTCCATTCTGCCCTCCTT	0.582																																																	0													179.0	124.0	143.0					X																	136113007		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.827G>C	X.37:g.136113007C>G	ENSP00000298110:p.Arg276Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R276T	ENST00000298110.1	37	c.827	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	0.408	-0.915008	0.02415	.	.	ENSG00000165370	ENST00000298110	T	0.63744	-0.06	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	1.153920	0.06668	N	0.765709	T	0.43634	0.1256	N	0.08118	0	0.25982	N	0.982351	B	0.09022	0.002	B	0.14578	0.011	T	0.07028	-1.0794	10	0.12766	T	0.61	-0.4456	13.2238	0.59903	0.0:1.0:0.0:0.0	.	276	Q96P66	GP101_HUMAN	T	276	ENSP00000298110:R276T	ENSP00000298110:R276T	R	-	2	0	GPR101	135940673	0.000000	0.05858	0.910000	0.35882	0.288000	0.27193	0.171000	0.16685	2.283000	0.76528	0.529000	0.55759	AGA	GPR101	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136113007	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	missense	SNP	0.966	G
GPR114	221188	genome.wustl.edu	37	16	57604363	57604363	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57604363C>G	ENST00000340339.4	+	10	1647	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	GPR114_ENST00000394361.4_Intron|GPR114_ENST00000349457.3_Missense_Mutation_p.S375C	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	375					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CTTTCCCTCTCTGTCAAGAGC	0.632																																																	0													63.0	58.0	59.0					16																	57604363		2198	4300	6498	SO:0001583	missense	221188			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1124C>G	16.37:g.57604363C>G	ENSP00000342981:p.Ser375Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.S375C	ENST00000340339.4	37	c.1124	CCDS10785.1	16	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661414	0.14645	.	.	ENSG00000159618	ENST00000340339;ENST00000349457	T;T	0.45668	0.89;0.89	4.58	-0.575	0.11734	GPCR, family 2-like (1);	1.614470	0.03708	N	0.249665	T	0.38612	0.1047	L	0.42632	1.34	0.09310	N	1	P	0.34815	0.47	B	0.38428	0.273	T	0.38972	-0.9636	10	0.52906	T	0.07	.	6.7026	0.23232	0.0:0.3283:0.0:0.6717	.	375	Q8IZF4	GP114_HUMAN	C	375	ENSP00000342981:S375C;ENSP00000290823:S375C	ENSP00000342981:S375C	S	+	2	0	GPR114	56161864	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.311000	0.08124	0.008000	0.14787	0.555000	0.69702	TCT	GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.632	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	C	NM_153837		57604363	+1	no_errors	ENST00000340339	ensembl	human	known	70_37	missense	SNP	0.000	G
GPR142	350383	genome.wustl.edu	37	17	72368270	72368270	+	Missense_Mutation	SNP	G	G	C	rs202167160	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72368270G>C	ENST00000335666.4	+	4	968	c.920G>C	c.(919-921)aGa>aCa	p.R307T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	307						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GACTCACCCAGAACACTGGAC	0.597																																																	0													153.0	114.0	127.0					17																	72368270		2203	4300	6503	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.920G>C	17.37:g.72368270G>C	ENSP00000335158:p.Arg307Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R307T	ENST00000335666.4	37	c.920	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376096	0.01214	.	.	ENSG00000257008	ENST00000335666	T	0.71341	-0.56	4.62	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.208121	0.49916	D	0.000125	T	0.34279	0.0892	N	0.01048	-1.04	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24012	-1.0172	10	0.10111	T	0.7	-24.3051	8.4255	0.32727	0.0902:0.2068:0.703:0.0	.	307;1269	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	307	ENSP00000335158:R307T	ENSP00000335158:R307T	R	+	2	0	GPR142	69879865	0.519000	0.26242	0.913000	0.36048	0.017000	0.09413	2.631000	0.46502	2.524000	0.85096	0.556000	0.70494	AGA	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	G	NM_181790		72368270	+1	no_errors	ENST00000335666	ensembl	human	known	70_37	missense	SNP	0.841	C
GPR142	350383	genome.wustl.edu	37	17	72368289	72368289	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72368289C>G	ENST00000335666.4	+	4	987	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	313						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						ACGAGGTCCTCAAGTGGGCTC	0.597																																																	0													174.0	127.0	143.0					17																	72368289		2203	4300	6503	SO:0001819	synonymous_variant	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.939C>G	17.37:g.72368289C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4CYJ8|Q86SL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L313	ENST00000335666.4	37	c.939	CCDS11698.1	17																																																																																			GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	C	NM_181790		72368289	+1	no_errors	ENST00000335666	ensembl	human	known	70_37	silent	SNP	1.000	G
GPRASP1	9737	genome.wustl.edu	37	X	101909941	101909941	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101909941C>T	ENST00000361600.5	+	5	1901	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	GPRASP1_ENST00000537097.1_Missense_Mutation_p.S367L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S367L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S367L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	367					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S367*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATACCTTTTCAAGGCCCATG	0.488																																																	1	Substitution - Nonsense(1)	cervix(1)											50.0	59.0	56.0					X																	101909941		2202	4299	6501	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1100C>T	X.37:g.101909941C>T	ENSP00000355146:p.Ser367Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S367L	ENST00000361600.5	37	c.1100	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	5.394	0.257819	0.10239	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	2.32	-2.31	0.06765	.	.	.	.	.	T	0.06962	0.0177	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50074	-0.8870	9	0.02654	T	1	0.1279	8.4942	0.33119	0.0:0.2467:0.0:0.7533	.	367	Q5JY77	GASP1_HUMAN	L	367	ENSP00000393691:S367L;ENSP00000409420:S367L;ENSP00000355146:S367L;ENSP00000445683:S367L	ENSP00000355146:S367L	S	+	2	0	GPRASP1	101796597	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-1.108000	0.03313	-0.849000	0.04158	0.458000	0.33432	TCA	GPRASP1	-	NULL		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	C	NM_014710		101909941	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.000	T
GRHL2	79977	genome.wustl.edu	37	8	102570802	102570802	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:102570802C>T	ENST00000251808.3	+	4	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	GRHL2_ENST00000395927.1_Missense_Mutation_p.S131F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCCGAGAGCTCTGCCATCATC	0.527																																																	0													119.0	115.0	117.0					8																	102570802		2203	4300	6503	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.440C>T	8.37:g.102570802C>T	ENSP00000251808:p.Ser147Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.S147F	ENST00000251808.3	37	c.440	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131912	0.37630	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12361	2.69;2.7	5.1	5.1	0.69264	.	0.491341	0.22165	N	0.063727	T	0.17662	0.0424	L	0.29908	0.895	0.41607	D	0.988883	B;P	0.35944	0.412;0.529	B;B	0.42738	0.188;0.396	T	0.04537	-1.0944	10	0.56958	D	0.05	-2.2035	18.5219	0.90956	0.0:1.0:0.0:0.0	.	147;147	B4DL28;Q6ISB3	.;GRHL2_HUMAN	F	147;131;147	ENSP00000251808:S147F;ENSP00000379260:S131F	ENSP00000251808:S147F	S	+	2	0	GRHL2	102639978	0.994000	0.37717	0.786000	0.31890	0.142000	0.21351	6.648000	0.74359	2.366000	0.80165	0.637000	0.83480	TCT	GRHL2	-	NULL		0.527	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	C	NM_024915		102570802	+1	no_errors	ENST00000251808	ensembl	human	known	70_37	missense	SNP	0.803	T
GRIA2	2891	genome.wustl.edu	37	4	158257849	158257849	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:158257849C>T	ENST00000264426.9	+	11	2073	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	GRIA2_ENST00000393815.2_Silent_p.L551L|GRIA2_ENST00000296526.7_Silent_p.L598L|GRIA2_ENST00000507898.1_Silent_p.L551L|GRIA2_ENST00000449365.1_Silent_p.L551L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	598					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTAATAGTCTCTGGTTTTCCT	0.433																																																	0													133.0	136.0	135.0					4																	158257849		2203	4300	6503	SO:0001819	synonymous_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1794C>T	4.37:g.158257849C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT92|I6L997|Q96FP6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L598	ENST00000264426.9	37	c.1794	CCDS43274.1	4																																																																																			GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	C			158257849	+1	no_errors	ENST00000264426	ensembl	human	known	70_37	silent	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87898609	87898609	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:87898609G>A	ENST00000327946.7	-	4	778	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	231					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTGTGGGCTGAGCAGCAGGA	0.602										Multiple Myeloma(13;0.14)																																							0													127.0	112.0	117.0					10																	87898609		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.693C>T	10.37:g.87898609G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L231	ENST00000327946.7	37	c.693	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	G	XM_043613		87898609	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	0.928	A
GTF3C1	2975	genome.wustl.edu	37	16	27481442	27481442	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27481442C>T	ENST00000356183.4	-	31	4816	c.4801G>A	c.(4801-4803)Gag>Aag	p.E1601K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1601K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1601					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTGATGACCTCATTCTCCACC	0.562																																																	0													165.0	150.0	155.0					16																	27481442		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4801G>A	16.37:g.27481442C>T	ENSP00000348510:p.Glu1601Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E1601K	ENST00000356183.4	37	c.4801	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237327	0.79800	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25912	1.77	5.47	5.47	0.80525	.	0.304579	0.35235	N	0.003355	T	0.41373	0.1156	M	0.76574	2.34	0.40899	D	0.984133	P;P	0.51791	0.792;0.948	B;P	0.47941	0.326;0.562	T	0.44620	-0.9316	10	0.59425	D	0.04	-20.9728	18.943	0.92611	0.0:1.0:0.0:0.0	.	1601;1601	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1601;1597	ENSP00000348510:E1601K	ENSP00000348510:E1601K	E	-	1	0	GTF3C1	27388943	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	5.303000	0.65738	2.561000	0.86390	0.591000	0.81541	GAG	GTF3C1	-	NULL		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27481442	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	1.000	T
GUCY1B3	2983	genome.wustl.edu	37	4	156724850	156724850	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:156724850C>T	ENST00000264424.8	+	11	1570	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	GUCY1B3_ENST00000507146.1_Silent_p.I471I|GUCY1B3_ENST00000513437.1_Silent_p.I428I|GUCY1B3_ENST00000503520.1_Silent_p.I463I|GUCY1B3_ENST00000505764.1_Silent_p.I476I|GUCY1B3_ENST00000505154.1_Silent_p.I428I|GUCY1B3_ENST00000502959.1_Silent_p.I518I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	496	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CACGATCCATCTGCCACCTGG	0.418																																																	0													75.0	78.0	77.0					4																	156724850		1973	4173	6146	SO:0001819	synonymous_variant	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1488C>T	4.37:g.156724850C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z426|Q86WY5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I496	ENST00000264424.8	37	c.1488	CCDS47154.1	4																																																																																			GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.418	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	C			156724850	+1	no_errors	ENST00000264424	ensembl	human	known	70_37	silent	SNP	0.986	T
GUCY2C	2984	genome.wustl.edu	37	12	14794077	14794077	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:14794077G>A	ENST00000261170.3	-	18	2143	c.2007C>T	c.(2005-2007)atC>atT	p.I669I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTCCTGTGCGATGATCCCAT	0.493																																																	0													152.0	113.0	126.0					12																	14794077		2203	4300	6503	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2007C>T	12.37:g.14794077G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.I669	ENST00000261170.3	37	c.2007	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.493	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14794077	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	silent	SNP	0.521	A
HARBI1	283254	genome.wustl.edu	37	11	46637691	46637691	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637691C>T	ENST00000326737.3	-	2	344	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	33						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCAAGTATTCATCAGTCACA	0.483																																																	0													90.0	81.0	84.0					11																	46637691		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.97G>A	11.37:g.46637691C>T	ENSP00000317743:p.Glu33Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.E33K	ENST00000326737.3	37	c.97	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764787	0.49574	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.442058	0.28533	N	0.015006	T	0.52980	0.1768	L	0.27053	0.805	0.39017	D	0.959664	B	0.33512	0.415	B	0.40741	0.339	T	0.51340	-0.8718	9	0.27082	T	0.32	-6.2151	19.1143	0.93331	0.0:1.0:0.0:0.0	.	33	Q96MB7	HARB1_HUMAN	K	33	.	ENSP00000317743:E33K	E	-	1	0	HARBI1	46594267	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.960000	0.49161	2.534000	0.85438	0.655000	0.94253	GAA	HARBI1	-	NULL		0.483	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637691	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	1.000	T
HARBI1	283254	genome.wustl.edu	37	11	46637694	46637694	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637694C>T	ENST00000326737.3	-	2	341	c.94G>A	c.(94-96)Gat>Aat	p.D32N	ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	32						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AAGTATTCATCAGTCACATCA	0.468																																																	0													91.0	82.0	85.0					11																	46637694		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.94G>A	11.37:g.46637694C>T	ENSP00000317743:p.Asp32Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.D32N	ENST00000326737.3	37	c.94	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290152	0.80914	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.32530	0.975	0.80722	D	1	P	0.52316	0.952	P	0.51701	0.677	T	0.62358	-0.6871	9	0.52906	T	0.07	-21.1694	19.1143	0.93331	0.0:1.0:0.0:0.0	.	32	Q96MB7	HARB1_HUMAN	N	32	.	ENSP00000317743:D32N	D	-	1	0	HARBI1	46594270	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	5.693000	0.68264	2.534000	0.85438	0.655000	0.94253	GAT	HARBI1	-	NULL		0.468	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637694	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	1.000	T
HARBI1	283254	genome.wustl.edu	37	11	46637703	46637703	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:46637703C>T	ENST00000326737.3	-	2	332	c.85G>A	c.(85-87)Gat>Aat	p.D29N	ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	29						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TCAGTCACATCATCCAGCTTA	0.453																																																	0													97.0	86.0	89.0					11																	46637703		2201	4299	6500	SO:0001583	missense	283254			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.85G>A	11.37:g.46637703C>T	ENSP00000317743:p.Asp29Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.D29N	ENST00000326737.3	37	c.85	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127452	0.37533	.	.	ENSG00000180423	ENST00000326737;ENST00000529192;ENST00000532281	.	.	.	5.37	5.37	0.77165	.	0.199761	0.52532	D	0.000073	T	0.45418	0.1341	L	0.27053	0.805	0.41231	D	0.986576	B	0.26635	0.155	B	0.21546	0.035	T	0.36915	-0.9728	9	0.13853	T	0.58	-21.4114	19.1143	0.93331	0.0:1.0:0.0:0.0	.	29	Q96MB7	HARB1_HUMAN	N	29	.	ENSP00000317743:D29N	D	-	1	0	HARBI1	46594279	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.996000	0.40776	2.534000	0.85438	0.655000	0.94253	GAT	HARBI1	-	NULL		0.453	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1	C	NM_173811		46637703	-1	no_errors	ENST00000326737	ensembl	human	known	70_37	missense	SNP	0.998	T
HCAR3	8843	genome.wustl.edu	37	12	123200213	123200213	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:123200213G>C	ENST00000528880.2	-	1	1226	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	358					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GTTGGGCCCAGATAAGAGGGG	0.552																																																	0													99.0	106.0	104.0					12																	123200213		2203	4300	6503	SO:0001583	missense	8843			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1072C>G	12.37:g.123200213G>C	ENSP00000436714:p.Leu358Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.L358V	ENST00000528880.2	37	c.1072	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	g	9.148	1.015596	0.19355	.	.	ENSG00000255398	ENST00000528880	T	0.62105	0.05	2.99	0.744	0.18353	.	.	.	.	.	T	0.48732	0.1516	L	0.44542	1.39	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.32214	-0.9915	9	0.22109	T	0.4	.	8.3074	0.32051	0.0:0.4846:0.5154:0.0	.	358	E9PI97	.	V	358	ENSP00000436714:L358V	ENSP00000436714:L358V	L	-	1	2	HCAR3	121766166	0.012000	0.17670	0.015000	0.15790	0.147000	0.21601	0.079000	0.14782	0.514000	0.28300	0.184000	0.17185	CTG	HCAR3	-	NULL		0.552	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	G	NM_006018		123200213	-1	no_errors	ENST00000528880	ensembl	human	known	70_37	missense	SNP	0.031	C
HCFC1	3054	genome.wustl.edu	37	X	153215957	153215957	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:153215957G>A	ENST00000310441.7	-	24	6707	c.5741C>T	c.(5740-5742)tCt>tTt	p.S1914F	HCFC1_ENST00000369984.4_Missense_Mutation_p.S1959F|HCFC1_ENST00000354233.3_Missense_Mutation_p.S1845F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1914	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGTCACAGAGGGTGGCTC	0.602																																																	0													48.0	52.0	51.0					X																	153215957		2117	4225	6342	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5741C>T	X.37:g.153215957G>A	ENSP00000309555:p.Ser1914Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.S1914F	ENST00000310441.7	37	c.5741	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570982	0.86542	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.55413	0.52;0.52;0.52	5.17	5.17	0.71159	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.053412	0.85682	D	0.000000	T	0.63200	0.2491	M	0.72894	2.215	0.45777	D	0.998662	D	0.55385	0.971	P	0.50440	0.641	T	0.69120	-0.5229	10	0.66056	D	0.02	.	16.5792	0.84710	0.0:0.0:1.0:0.0	.	1914	P51610	HCFC1_HUMAN	F	1914;1959;1845	ENSP00000309555:S1914F;ENSP00000359001:S1959F;ENSP00000346174:S1845F	ENSP00000309555:S1914F	S	-	2	0	HCFC1	152869151	1.000000	0.71417	0.740000	0.30986	0.684000	0.39900	5.778000	0.68940	2.171000	0.68590	0.521000	0.50471	TCT	HCFC1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.602	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	G	NM_005334		153215957	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	0.995	A
HDGF	3068	genome.wustl.edu	37	1	156712542	156712542	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156712542C>T	ENST00000357325.5	-	0	1736				MRPL24_ENST00000361531.2_5'Flank|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000368209.5_3'UTR|HDGF_ENST00000537739.1_3'UTR|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCCTTCAGGTCTCAGGTCCTT	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.*699G>A	1.37:g.156712542C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	RNA	SNP	-	NULL	ENST00000357325.5	37	NULL	CCDS1156.1	1																																																																																			HDGF	-	-		0.478	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	C	NM_004494		156712542	-1	no_errors	ENST00000465180	ensembl	human	known	70_37	rna	SNP	0.184	T
HECTD1	25831	genome.wustl.edu	37	14	31644182	31644182	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:31644182G>C	ENST00000399332.1	-	4	1026	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	HECTD1_ENST00000553700.1_Missense_Mutation_p.Q180E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	180					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAAGAATCTTGAGGCTCCATT	0.378																																																	0													98.0	92.0	94.0					14																	31644182		1910	4141	6051	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.538C>G	14.37:g.31644182G>C	ENSP00000382269:p.Gln180Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.Q180E	ENST00000399332.1	37	c.538	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498858	0.44455	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.29397	1.57;1.57;1.57	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.050111	0.85682	D	0.000000	T	0.25901	0.0631	L	0.41236	1.265	0.80722	D	1	B	0.25007	0.116	B	0.18871	0.023	T	0.09618	-1.0666	10	0.07813	T	0.8	-4.0391	19.3108	0.94187	0.0:0.0:1.0:0.0	.	180	Q9ULT8	HECD1_HUMAN	E	180	ENSP00000450697:Q180E;ENSP00000382269:Q180E;ENSP00000452015:Q180E	ENSP00000261312:Q180E	Q	-	1	0	HECTD1	30713933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.412000	0.97347	2.576000	0.86940	0.479000	0.44913	CAA	HECTD1	-	superfamily_ARM-type_fold		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31644182	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	C
HECTD1	25831	genome.wustl.edu	37	14	31644208	31644208	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:31644208G>A	ENST00000399332.1	-	4	1000	c.512C>T	c.(511-513)tCa>tTa	p.S171L	HECTD1_ENST00000553700.1_Missense_Mutation_p.S171L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	171					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACAGAGTCTTGATACCACAGC	0.398																																																	0													106.0	99.0	101.0					14																	31644208		1960	4183	6143	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.512C>T	14.37:g.31644208G>A	ENSP00000382269:p.Ser171Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.S171L	ENST00000399332.1	37	c.512	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.241477	0.95272	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.66099	-0.19;-0.19;-0.19	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.73962	2.25	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.80591	-0.1314	10	0.87932	D	0	-6.2978	19.3108	0.94187	0.0:0.0:1.0:0.0	.	171	Q9ULT8	HECD1_HUMAN	L	171	ENSP00000450697:S171L;ENSP00000382269:S171L;ENSP00000452015:S171L	ENSP00000261312:S171L	S	-	2	0	HECTD1	30713959	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.412000	0.97347	2.576000	0.86940	0.479000	0.44913	TCA	HECTD1	-	superfamily_ARM-type_fold		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	G			31644208	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	A
HECW1	23072	genome.wustl.edu	37	7	43484406	43484406	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:43484406G>A	ENST00000395891.2	+	11	2240	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	HECW1_ENST00000453890.1_Silent_p.V545V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	545					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGAGACGGTGATCGCGTCAG	0.682																																																	0													42.0	51.0	48.0					7																	43484406		2109	4222	6331	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1635G>A	7.37:g.43484406G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.V545	ENST00000395891.2	37	c.1635	CCDS5469.2	7																																																																																			HECW1	-	NULL		0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484406	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	silent	SNP	1.000	A
HELZ2	85441	genome.wustl.edu	37	20	62202569	62202569	+	Intron	SNP	A	A	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:62202569A>C	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCCCGCTCCAAGCTCCTGGG	0.697																																																	0																																										SO:0001627	intron_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-348T>G	20.37:g.62202569A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62202569	-1	no_errors	ENST00000479540	ensembl	human	known	70_37	rna	SNP	0.993	C
HERC2	8924	genome.wustl.edu	37	15	28510988	28510988	+	Silent	SNP	G	G	A	rs138275638	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:28510988G>A	ENST00000261609.7	-	13	1839	c.1731C>T	c.(1729-1731)cgC>cgT	p.R577R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTAGTTCCCGCGGCCCCAGG	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0																0								G		6,4400	11.4+/-27.6	0,6,2197	51.0	49.0	49.0		1731	-10.8	0.7	15	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	HERC2	NM_004667.4		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		577/4835	28510988	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1731C>T	15.37:g.28510988G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R577	ENST00000261609.7	37	c.1731	CCDS10021.1	15																																																																																			HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28510988	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	0.430	A
HGS	9146	genome.wustl.edu	37	17	79667754	79667754	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79667754C>T	ENST00000329138.4	+	20	2181	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	682	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACAGAGCCTCCCGGCCATCT	0.657																																																	0													31.0	32.0	32.0					17																	79667754		2203	4300	6503	SO:0001819	synonymous_variant	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2046C>T	17.37:g.79667754C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.L682	ENST00000329138.4	37	c.2046	CCDS11784.1	17																																																																																			HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79667754	+1	no_errors	ENST00000329138	ensembl	human	known	70_37	silent	SNP	1.000	T
HIST1H2BM	8342	genome.wustl.edu	37	6	27783096	27783096	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:27783096C>T	ENST00000359465.4	+	1	275	c.275C>T	c.(274-276)tCg>tTg	p.S92L	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	92					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ACCATCACTTCGAGGGAGATC	0.592																																																	0													79.0	77.0	78.0					6																	27783096		2203	4300	6503	SO:0001583	missense	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.275C>T	6.37:g.27783096C>T	ENSP00000352442:p.Ser92Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NWQ3	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S92L	ENST00000359465.4	37	c.275	CCDS4629.1	6	.	.	.	.	.	.	.	.	.	.	.	18.38	3.610555	0.66558	.	.	ENSG00000196374	ENST00000359465	T	0.45668	0.89	4.34	4.34	0.51931	Histone-fold (2);Histone core (1);	0.000000	0.53938	U	0.000051	T	0.67297	0.2878	H	0.99347	4.525	0.58432	D	0.999996	D	0.57899	0.981	P	0.51016	0.656	T	0.83255	-0.0051	10	0.87932	D	0	.	16.3606	0.83263	0.0:1.0:0.0:0.0	.	92	Q99879	H2B1M_HUMAN	L	92	ENSP00000352442:S92L	ENSP00000352442:S92L	S	+	2	0	HIST1H2BM	27891075	1.000000	0.71417	0.320000	0.25306	0.984000	0.73092	7.286000	0.78671	2.391000	0.81399	0.563000	0.77884	TCG	HIST1H2BM	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BM	HGNC	protein_coding	OTTHUMT00000040157.1	C	NM_003521		27783096	+1	no_errors	ENST00000359465	ensembl	human	known	70_37	missense	SNP	0.989	T
HIST2H2AB	317772	genome.wustl.edu	37	1	149859407	149859407	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:149859407G>A	ENST00000331128.3	-	1	59	c.60C>T	c.(58-60)tcC>tcT	p.S20S	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	20						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GACCAGCGCGGGACGAGCGCG	0.637																																																	0													55.0	63.0	60.0					1																	149859407		2202	4297	6499	SO:0001819	synonymous_variant	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.60C>T	1.37:g.149859407G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S20	ENST00000331128.3	37	c.60	CCDS938.1	1																																																																																			HIST2H2AB	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.637	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859407	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	silent	SNP	0.975	A
HLA-A	3105	genome.wustl.edu	37	6	29912276	29912276	+	Splice_Site	SNP	G	G	C	rs45540334		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:29912276G>C	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							1	Unknown(1)	lung(1)											77.0	73.0	74.0					6																	29912276		1511	2709	4220	SO:0001630	splice_region_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.896-1G>C	6.37:g.29912276G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	-	e5-1	ENST00000396634.1	37	c.896-1	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964858	0.34659	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1517	0.48462	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30020255	0.610000	0.26983	0.642000	0.29436	0.168000	0.22595	1.352000	0.34033	2.070000	0.61991	0.485000	0.47835	.	HLA-A	-	-		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116	Intron	29912276	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	splice_site	SNP	0.908	C
HLA-B	3106	genome.wustl.edu	37	6	31324681	31324681	+	Nonsense_Mutation	SNP	C	C	A	rs137854653		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:31324681C>A	ENST00000412585.2	-	2	155	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AAGCGGGGCTCCCCGCGGCCG	0.701									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													21.0	17.0	18.0					6																	31324681		2112	4128	6240	SO:0001587	stop_gained	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.127G>T	6.37:g.31324681C>A	ENSP00000399168:p.Glu43*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E43*	ENST00000412585.2	37	c.127	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	16.09	3.023355	0.54683	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	.	.	.	3.2	1.4	0.22301	.	2.106960	0.03535	U	0.223072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.7509	0.08566	0.0:0.5542:0.2044:0.2414	.	.	.	.	X	43;54	.	ENSP00000399168:E43X	E	-	1	0	HLA-B	31432660	0.000000	0.05858	0.445000	0.26908	0.006000	0.05464	-0.958000	0.03857	0.216000	0.20781	-0.480000	0.04831	GAG	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.701	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514		31324681	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	nonsense	SNP	0.989	A
HLA-F	3134	genome.wustl.edu	37	6	29694151	29694151	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:29694151G>A	ENST00000376861.1	+	8	1420				HLA-F_ENST00000259951.7_Intron|HLA-F_ENST00000334668.4_Intron|HLA-F_ENST00000434407.2_Intron|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGACTGATACGAATTTGTTCA	0.428																																																	0													74.0	88.0	83.0					6																	29694151		1473	2697	4170	SO:0001627	intron_variant	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.1037-29G>A	6.37:g.29694151G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	RNA	SNP	-	NULL	ENST00000376861.1	37	NULL	CCDS43438.1	6																																																																																			HLA-F	-	-		0.428	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	G	NM_018950		29694151	+1	no_errors	ENST00000484704	ensembl	human	known	70_37	rna	SNP	0.001	A
HLA-DQA1	3117	genome.wustl.edu	37	6	32609155	32609155	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32609155G>C	ENST00000343139.5	+	2	253	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E51Q|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E51Q	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	51	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532																																																	0													128.0	108.0	115.0					6																	32609155		2202	4285	6487	SO:0001583	missense	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.151G>C	6.37:g.32609155G>C	ENSP00000339398:p.Glu51Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.E51Q	ENST00000343139.5	37	c.151	CCDS4752.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.87|13.87	2.365677|2.365677	0.41902|0.41902	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.00856|.	5.61;5.61;5.61;5.61|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	0.142348|.	0.46442|.	U|.	0.000284|.	T|T	0.72203|0.72203	0.3431|0.3431	M|M	0.92880|0.92880	3.355|3.355	0.31410|0.31410	N|N	0.675646|0.675646	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.91635|.	0.999;0.883|.	T|T	0.73739|0.73739	-0.3888|-0.3888	10|5	0.66056|.	D|.	0.02|.	.|.	13.6421|13.6421	0.62257|0.62257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57;51|.	Q59F33;G4XQK2|.	.;.|.	Q|I	51|23	ENSP00000339398:E51Q;ENSP00000378767:E51Q;ENSP00000437302:E51Q;ENSP00000364087:E51Q|.	ENSP00000339398:E51Q|.	E|M	+|+	1|3	0|0	HLA-DQA1|HLA-DQA1	32717133|32717133	0.999000|0.999000	0.42202|0.42202	0.953000|0.953000	0.39169|0.39169	0.058000|0.058000	0.15608|0.15608	5.124000|5.124000	0.64709|0.64709	2.151000|2.151000	0.67156|0.67156	0.462000|0.462000	0.41574|0.41574	GAA|ATG	HLA-DQA1	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.532	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	G	NM_002122		32609155	+1	no_errors	ENST00000343139	ensembl	human	known	70_37	missense	SNP	0.980	C
HLX	3142	genome.wustl.edu	37	1	221057537	221057537	+	Splice_Site	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:221057537G>A	ENST00000366903.6	+	4	2459	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	HLX_ENST00000549319.1_Splice_Site_p.V106M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	320					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CGCGGCGCAGGTGAAGGTGTG	0.622																																																	0													37.0	42.0	40.0					1																	221057537		2203	4300	6503	SO:0001630	splice_region_variant	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.958-1G>A	1.37:g.221057537G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.V320M	ENST00000366903.6	37	c.958	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800267	0.90538	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;D;D	0.99023	-5.34;-4.99;-5.34	4.8	4.8	0.61643	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.49305	D	0.000153	D	0.99629	0.9864	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97362	0.9970	9	.	.	.	-26.0772	16.9979	0.86373	0.0:0.0:1.0:0.0	.	320	Q14774	HLX_HUMAN	M	320;53;106	ENSP00000355870:V320M;ENSP00000408248:V53M;ENSP00000449882:V106M	.	V	+	1	0	HLX	219124160	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.313000	0.96297	2.386000	0.81285	0.561000	0.74099	GTG	HLX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa		0.622	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	G	NM_021958	Missense_Mutation	221057537	+1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	1.000	A
HMGA1	3159	genome.wustl.edu	37	6	34208659	34208659	+	Silent	SNP	G	G	A	rs143690346		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:34208659G>A	ENST00000447654.1	+	2	591	c.102G>A	c.(100-102)ccG>ccA	p.P34P	HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000395004.3_Silent_p.P34P|HMGA1_ENST00000347617.6_Splice_Site_p.P34P|HMGA1_ENST00000374116.3_Splice_Site_p.P34P|HMGA1_ENST00000401473.3_Splice_Site_p.P34P|HMGA1_ENST00000311487.5_Silent_p.P34P	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	34					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						AGCAGCCTCCGGTGAGTCCCG	0.622			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								g|||	1	0.000199681	0.0	0.0	5008	,	,		15322	0.0		0.0	False		,,,				2504	0.001							Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"""E, M"""	0								G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	35.0	43.0	40.0		102,102,102,102,102,102	4.9	1.0	6	dbSNP_134	40	2,8594	2.2+/-6.3	0,2,4296	yes	coding-synonymous-near-splice,coding-synonymous,coding-synonymous,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	HMGA1	NM_002131.3,NM_145899.2,NM_145901.2,NM_145902.2,NM_145903.2,NM_145905.2	,,,,,	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	,,,,,	34/97,34/108,34/108,34/97,34/97,34/97	34208659	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	3159			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"""High-mobility group / Canonical"""	5010	protein-coding gene	gene with protein product		600701	"""high-mobility group (nonhistone chromosomal) protein isoforms I and Y"""	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.102G>A	6.37:g.34208659G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P10910|Q5T6U9|Q9UKB0	Silent	SNP	prints_HMGI/HMGY,prints_AT_hook-like	p.P34	ENST00000447654.1	37	c.102	CCDS4789.1	6																																																																																			HMGA1	-	NULL		0.622	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2	G	NM_145899		34208659	+1	no_errors	ENST00000395004	ensembl	human	known	70_37	silent	SNP	1.000	A
HMGXB4	10042	genome.wustl.edu	37	22	35659852	35659852	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:35659852G>A	ENST00000216106.5	+	4	372	c.244G>A	c.(244-246)Gat>Aat	p.D82N	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	82					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCCTCTGATGATTACTACTA	0.443																																																	0													127.0	109.0	115.0					22																	35659852		2203	4300	6503	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.244G>A	22.37:g.35659852G>A	ENSP00000216106:p.Asp82Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D82N	ENST00000216106.5	37	c.244	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382628	0.61845	.	.	ENSG00000100281	ENST00000216106	T	0.20069	2.1	6.02	6.02	0.97574	.	0.215835	0.46758	D	0.000277	T	0.31796	0.0808	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.04537	-1.0944	10	0.87932	D	0	-19.0199	19.5352	0.95251	0.0:0.0:1.0:0.0	.	82	Q9UGU5	HMGX4_HUMAN	N	82	ENSP00000216106:D82N	ENSP00000216106:D82N	D	+	1	0	HMGXB4	33989852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.712000	0.74681	2.850000	0.98022	0.650000	0.86243	GAT	HMGXB4	-	NULL		0.443	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	G	NM_005487		35659852	+1	no_errors	ENST00000216106	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXA7	3204	genome.wustl.edu	37	7	27196076	27196076	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:27196076G>A	ENST00000242159.3	-	1	222	c.89C>T	c.(88-90)tCc>tTc	p.S30F	RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA7_ENST00000523796.2_5'Flank|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	30					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GGGAGCAAAGGAGCAAGAAGT	0.537																																																	0													54.0	69.0	64.0					7																	27196076		2200	4297	6497	SO:0001583	missense	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.89C>T	7.37:g.27196076G>A	ENSP00000242159:p.Ser30Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S30F	ENST00000242159.3	37	c.89	CCDS5408.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357746	0.82243	.	.	ENSG00000122592	ENST00000242159;ENST00000519842	T;T	0.71222	1.48;-0.55	5.32	5.32	0.75619	.	0.203927	0.42294	D	0.000722	T	0.76499	0.3996	M	0.66939	2.045	0.51233	D	0.999917	D	0.57899	0.981	P	0.48840	0.592	T	0.79332	-0.1847	10	0.59425	D	0.04	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	30	P31268	HXA7_HUMAN	F	30	ENSP00000242159:S30F;ENSP00000428563:S30F	ENSP00000242159:S30F	S	-	2	0	HOXA7	27162601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.893000	0.63199	2.656000	0.90262	0.561000	0.74099	TCC	HOXA7	-	NULL		0.537	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA7	HGNC	protein_coding	OTTHUMT00000358695.1	G			27196076	-1	no_errors	ENST00000242159	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXB2	3212	genome.wustl.edu	37	17	46622224	46622224	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:46622224G>A	ENST00000330070.4	-	1	1217	c.50C>T	c.(49-51)tCg>tTg	p.S17L	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	17					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTCGGCGAGCGACGGCTGGCT	0.532																																																	0																																										SO:0001583	missense	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.50C>T	17.37:g.46622224G>A	ENSP00000331741:p.Ser17Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P10913|P17485	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S17L	ENST00000330070.4	37	c.50	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.243937	0.95272	.	.	ENSG00000173917	ENST00000330070	D	0.91295	-2.82	4.62	4.62	0.57501	.	0.072289	0.56097	D	0.000022	D	0.91653	0.7362	L	0.58510	1.815	0.80722	D	1	D	0.69078	0.997	P	0.51193	0.662	D	0.92811	0.6264	10	0.87932	D	0	.	16.8006	0.85613	0.0:0.0:1.0:0.0	.	17	P14652	HXB2_HUMAN	L	17	ENSP00000331741:S17L	ENSP00000331741:S17L	S	-	2	0	HOXB2	43977223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.101000	0.94219	2.560000	0.86352	0.650000	0.86243	TCG	HOXB2	-	NULL		0.532	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	G			46622224	-1	no_errors	ENST00000330070	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXD3	3232	genome.wustl.edu	37	2	177033965	177033965	+	Silent	SNP	C	C	T	rs201012462		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:177033965C>T	ENST00000468418.3	+	3	2213	c.123C>T	c.(121-123)taC>taT	p.Y41Y	HOXD3_ENST00000249440.3_Silent_p.Y41Y|HOXD3_ENST00000410016.1_Silent_p.Y41Y			P31249	HXD3_HUMAN	homeobox D3	41					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGACACTTACGGCTACAGCA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14413	0.0		0.0	False		,,,				2504	0.0																0													113.0	111.0	112.0					2																	177033965		2203	4300	6503	SO:0001819	synonymous_variant	3232				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.123C>T	2.37:g.177033965C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q99955|Q9BSC5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Y41	ENST00000468418.3	37	c.123	CCDS2270.1	2																																																																																			HOXD3	-	NULL		0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD3	HGNC	protein_coding	OTTHUMT00000334246.4	C			177033965	+1	no_errors	ENST00000249440	ensembl	human	known	70_37	silent	SNP	1.000	T
HPGD	3248	genome.wustl.edu	37	4	175413139	175413139	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:175413139C>G	ENST00000296522.6	-	7	1215	c.769G>C	c.(769-771)Gat>Cat	p.D257H	HPGD_ENST00000296521.7_3'UTR|HPGD_ENST00000510901.1_Missense_Mutation_p.D136H|HPGD_ENST00000541923.1_Missense_Mutation_p.D136H|HPGD_ENST00000542498.1_3'UTR|HPGD_ENST00000422112.2_Missense_Mutation_p.D189H	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	257					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GGAGTTGTATCATAGTCTTGA	0.328																																																	0													165.0	165.0	165.0					4																	175413139		2202	4298	6500	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.769G>C	4.37:g.175413139C>G	ENSP00000296522:p.Asp257His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.D257H	ENST00000296522.6	37	c.769	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451254	0.43531	.	.	ENSG00000164120	ENST00000296522;ENST00000510901;ENST00000422112;ENST00000541923	D;D;T;D	0.87334	-2.24;-1.53;-1.45;-1.53	5.84	5.84	0.93424	.	0.640684	0.16644	N	0.205497	T	0.81847	0.4909	N	0.22421	0.69	0.80722	D	1	B;B;B	0.28026	0.198;0.198;0.162	B;B;B	0.33960	0.173;0.121;0.09	T	0.78605	-0.2139	10	0.49607	T	0.09	.	14.0108	0.64495	0.0:0.9269:0.0:0.0731	.	189;257;136	E7EV11;P15428;B4DU74	.;PGDH_HUMAN;.	H	257;136;189;136	ENSP00000296522:D257H;ENSP00000422418:D136H;ENSP00000398720:D189H;ENSP00000438017:D136H	ENSP00000296522:D257H	D	-	1	0	HPGD	175649714	0.966000	0.33281	0.996000	0.52242	0.652000	0.38707	3.348000	0.52209	2.763000	0.94921	0.655000	0.94253	GAT	HPGD	-	NULL		0.328	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175413139	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	0.998	G
HPR	3250	genome.wustl.edu	37	16	72110819	72110819	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:72110819G>A	ENST00000540303.2	+	5	918	c.886G>A	c.(886-888)Gat>Aat	p.D296N	HPR_ENST00000228226.8_Missense_Mutation_p.D333N|HPR_ENST00000356967.5_Missense_Mutation_p.D296N|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	296	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGCTATGGCGATGCGGGCAG	0.567																																																	0													210.0	145.0	166.0					16																	72110819		2097	4212	6309	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.886G>A	16.37:g.72110819G>A	ENSP00000441828:p.Asp296Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D333N	ENST00000540303.2	37	c.997	CCDS42193.1	16	.	.	.	.	.	.	.	.	.	.	.	18.66	3.671795	0.67928	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.94457	-3.43;-3.43;-3.43	2.64	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058681	0.64402	N	0.000004	D	0.98385	0.9463	H	0.99444	4.57	0.49389	D	0.999786	D	0.89917	1.0	D	0.97110	1.0	D	0.98169	1.0451	10	0.87932	D	0	.	12.2123	0.54386	0.0:0.0:1.0:0.0	.	296	P00739	HPTR_HUMAN	N	296;296;333	ENSP00000349451:D296N;ENSP00000441828:D296N;ENSP00000228226:D333N	ENSP00000228226:D333N	D	+	1	0	HP	70668320	1.000000	0.71417	0.683000	0.30040	0.567000	0.35839	7.730000	0.84881	1.461000	0.47929	0.411000	0.27672	GAT	HPR	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.567	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPR	HGNC	protein_coding	OTTHUMT00000421696.1	G	NM_020995		72110819	+1	no_errors	ENST00000228226	ensembl	human	known	70_37	missense	SNP	0.999	A
HRH3	11255	genome.wustl.edu	37	20	60790436	60790436	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:60790436C>T	ENST00000340177.5	-	0	2248				HRH3_ENST00000317393.6_Silent_p.*454*	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3						brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	ACATCAAGTTCACAGACATGT	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	11255			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.*626G>A	20.37:g.60790436C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.*454	ENST00000340177.5	37	c.1361	CCDS13493.1	20																																																																																			HRH3	-	NULL		0.512	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	HGNC	protein_coding	OTTHUMT00000079994.1	C	NM_007232		60790436	-1	no_errors	ENST00000317393	ensembl	human	known	70_37	silent	SNP	1.000	T
HRH3	11255	genome.wustl.edu	37	20	60791269	60791269	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:60791269C>G	ENST00000340177.5	-	3	1415	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	HRH3_ENST00000317393.6_Silent_p.L377L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	377					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GGATGATCATCAGCAGCGTGT	0.622																																																	0													53.0	55.0	54.0					20																	60791269		2201	4300	6501	SO:0001819	synonymous_variant	11255			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1131G>C	20.37:g.60791269C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.L377	ENST00000340177.5	37	c.1131	CCDS13493.1	20																																																																																			HRH3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn		0.622	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	HGNC	protein_coding	OTTHUMT00000079994.1	C	NM_007232		60791269	-1	no_errors	ENST00000317393	ensembl	human	known	70_37	silent	SNP	0.108	G
HSD3B7	80270	genome.wustl.edu	37	16	30999441	30999441	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30999441G>A	ENST00000297679.5	+	7	1140	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	349					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCTGTTCTCGTGGGAGGATA	0.642																																																	0													32.0	28.0	30.0					16																	30999441		2197	4300	6497	SO:0001819	synonymous_variant	80270			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1047G>A	16.37:g.30999441G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M28|Q9BSN9	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.S349	ENST00000297679.5	37	c.1047	CCDS10698.1	16																																																																																			HSD3B7	-	NULL		0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	G			30999441	+1	no_errors	ENST00000297679	ensembl	human	known	70_37	silent	SNP	0.851	A
HSPA12A	259217	genome.wustl.edu	37	10	118434523	118434523	+	Silent	SNP	G	G	T	rs367596673	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:118434523G>T	ENST00000369209.3	-	12	1901	c.1797C>A	c.(1795-1797)gtC>gtA	p.V599V	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	599						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V1220V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGATGTTGATGACAATGACCA	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											84.0	89.0	88.0					10																	118434523		2095	4212	6307	SO:0001819	synonymous_variant	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1797C>A	10.37:g.118434523G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V599	ENST00000369209.3	37	c.1797	CCDS41569.1	10																																																																																			HSPA12A	-	NULL		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118434523	-1	no_errors	ENST00000369209	ensembl	human	known	70_37	silent	SNP	1.000	T
HSPA12A	259217	genome.wustl.edu	37	10	118434551	118434551	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:118434551G>A	ENST00000369209.3	-	12	1873	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	590						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGCTTGGCCGGGGTGTAGCT	0.572																																																	0													70.0	76.0	74.0					10																	118434551		2080	4208	6288	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1769C>T	10.37:g.118434551G>A	ENSP00000358211:p.Pro590Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.P590L	ENST00000369209.3	37	c.1769	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430235	0.62844	.	.	ENSG00000165868	ENST00000369209	T	0.54675	0.56	5.93	5.02	0.67125	.	0.049194	0.85682	D	0.000000	T	0.73768	0.3629	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	T	0.80207	-0.1478	10	0.72032	D	0.01	.	16.5733	0.84630	0.0:0.0:0.8686:0.1314	.	590	O43301	HS12A_HUMAN	L	590	ENSP00000358211:P590L	ENSP00000358211:P590L	P	-	2	0	HSPA12A	118424541	1.000000	0.71417	0.982000	0.44146	0.930000	0.56654	7.652000	0.83633	1.504000	0.48704	0.655000	0.94253	CCG	HSPA12A	-	NULL		0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	G	NM_025015		118434551	-1	no_errors	ENST00000369209	ensembl	human	known	70_37	missense	SNP	0.996	A
HSPB7	27129	genome.wustl.edu	37	1	16345659	16345659	+	5'Flank	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16345659G>A	ENST00000311890.9	-	0	0				HSPB7_ENST00000406363.2_5'Flank|HSPB7_ENST00000487046.1_5'Flank|HSPB7_ENST00000411503.1_5'Flank|HSPB7_ENST00000545268.1_5'Flank|CLCNKA_ENST00000420078.1_5'Flank|CLCNKA_ENST00000439316.2_5'Flank|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000331433.4_5'Flank|HSPB7_ENST00000375718.4_Silent_p.L102L|CLCNKA_ENST00000375692.1_5'Flank	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)						regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCATTCTGAGAGGCGGCC	0.637																																																	0																																										SO:0001631	upstream_gene_variant	27129			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531		1.37:g.16345659G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.L102	ENST00000311890.9	37	c.306	CCDS30611.1	1																																																																																			HSPB7	-	NULL		0.637	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	G	NM_014424		16345659	-1	no_errors	ENST00000375718	ensembl	human	novel	70_37	silent	SNP	0.000	A
HTR6	3362	genome.wustl.edu	37	1	20005617	20005617	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:20005617C>T	ENST00000289753.1	+	3	1546	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	360					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CACAGCGGCCCCCGGCCCGGC	0.721																																					Esophageal Squamous(168;1879 2619 6848 21062)												0													16.0	19.0	18.0					1																	20005617		2197	4289	6486	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1079C>T	1.37:g.20005617C>T	ENSP00000289753:p.Pro360Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.P360L	ENST00000289753.1	37	c.1079	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683454	0.47991	.	.	ENSG00000158748	ENST00000289753	T	0.54071	0.59	5.39	5.39	0.77823	.	1.081540	0.07325	N	0.878191	T	0.46132	0.1377	L	0.27053	0.805	0.43326	D	0.995354	B	0.27853	0.191	B	0.26770	0.073	T	0.11867	-1.0570	9	.	.	.	.	18.0883	0.89464	0.0:1.0:0.0:0.0	.	360	P50406	5HT6R_HUMAN	L	360	ENSP00000289753:P360L	.	P	+	2	0	HTR6	19878204	0.018000	0.18449	0.716000	0.30569	0.088000	0.18126	2.611000	0.46334	2.698000	0.92095	0.561000	0.74099	CCC	HTR6	-	NULL		0.721	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		20005617	+1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	0.968	T
ICA1	3382	genome.wustl.edu	37	7	8181633	8181633	+	Intron	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:8181633G>T	ENST00000402384.3	-	10	1169				ICA1_ENST00000422063.2_Missense_Mutation_p.L319I|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000265577.7_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTTTCTGTAGCATCTTAATA	0.368																																																	0																																										SO:0001627	intron_variant	3382				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.903-186C>A	7.37:g.8181633G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.L319I	ENST00000402384.3	37	c.955	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	G	7.682	0.689265	0.14973	.	.	ENSG00000003147	ENST00000422063	.	.	.	3.37	1.51	0.23008	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18524	-1.0334	7	0.29301	T	0.29	.	4.1573	0.10266	0.1237:0.0:0.6491:0.2273	.	319	B3FTQ2	.	I	319	.	ENSP00000403982:L319I	L	-	1	2	ICA1	8148158	0.003000	0.15002	0.001000	0.08648	0.556000	0.35491	0.643000	0.24750	0.418000	0.25898	0.650000	0.86243	CTA	ICA1	-	NULL		0.368	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	G	NM_004968		8181633	-1	no_errors	ENST00000422063	ensembl	human	known	70_37	missense	SNP	0.001	T
HYAL4	23553	genome.wustl.edu	37	7	123514826	123514826	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:123514826C>T	ENST00000223026.4	+	4	1604	c.966C>T	c.(964-966)gtC>gtT	p.V322V	HYAL4_ENST00000476325.1_Silent_p.V322V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	322					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGATCTAGTCAGCACCATAG	0.453																																																	0													95.0	88.0	91.0					7																	123514826		2203	4300	6503	SO:0001819	synonymous_variant	23553			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.966C>T	7.37:g.123514826C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20	p.V322	ENST00000223026.4	37	c.966	CCDS5789.1	7																																																																																			HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase		0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	C	NM_012269		123514826	+1	no_errors	ENST00000223026	ensembl	human	known	70_37	silent	SNP	1.000	T
ICAM1	3383	genome.wustl.edu	37	19	10394332	10394332	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:10394332C>T	ENST00000264832.3	+	3	832	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	169	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCGCTGAGGTCACGACCACGG	0.647																																																	0													31.0	32.0	32.0					19																	10394332		2203	4299	6502	SO:0001819	synonymous_variant	3383				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.507C>T	19.37:g.10394332C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6M3|Q5NKV7|Q96B50	Silent	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.V169	ENST00000264832.3	37	c.507	CCDS12231.1	19																																																																																			ICAM1	-	NULL		0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	C			10394332	+1	no_errors	ENST00000264832	ensembl	human	known	70_37	silent	SNP	0.053	T
IFT122	55764	genome.wustl.edu	37	3	129200465	129200465	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:129200465G>C	ENST00000348417.2	+	14	1658	c.1581G>C	c.(1579-1581)aaG>aaC	p.K527N	IFT122_ENST00000296266.3_Missense_Mutation_p.K578N|IFT122_ENST00000431818.2_Missense_Mutation_p.K377N|IFT122_ENST00000349441.2_Missense_Mutation_p.K416N|IFT122_ENST00000507564.1_Missense_Mutation_p.K519N|IFT122_ENST00000440957.2_Missense_Mutation_p.K318N|IFT122_ENST00000504021.1_Missense_Mutation_p.K421N|IFT122_ENST00000347300.2_Missense_Mutation_p.K468N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	527					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCTCCCGTAAGAAGCTGGCCG	0.537																																																	0													36.0	36.0	36.0					3																	129200465		2202	4280	6482	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1581G>C	3.37:g.129200465G>C	ENSP00000324005:p.Lys527Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K578N	ENST00000348417.2	37	c.1734	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	G	4.201	0.036037	0.08148	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;D;T;T;T;D;T	0.90324	3.34;0.74;0.74;-2.65;1.58;1.58;0.74;-2.65;0.75	5.5	0.701	0.18104	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.212986	0.47852	N	0.000220	T	0.72269	0.3439	N	0.05259	-0.085	0.28083	N	0.932114	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001;0.001;0.0;0.001	T	0.58869	-0.7560	10	0.08599	T	0.76	-22.1842	4.9112	0.13823	0.1237:0.6254:0.13:0.1209	.	318;519;421;367;416;468;527;578	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;IF122_HUMAN;.	N	468;578;519;468;377;421;416;527;367;318;42	ENSP00000323973:K468N;ENSP00000296266:K578N;ENSP00000425536:K519N;ENSP00000410946:K377N;ENSP00000422179:K421N;ENSP00000324165:K416N;ENSP00000324005:K527N;ENSP00000401569:K318N;ENSP00000424727:K42N	ENSP00000296266:K578N	K	+	3	2	IFT122	130683155	0.937000	0.31787	0.998000	0.56505	0.980000	0.70556	0.045000	0.14013	0.188000	0.20168	-0.353000	0.07706	AAG	IFT122	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	G	NM_018262		129200465	+1	no_errors	ENST00000296266	ensembl	human	known	70_37	missense	SNP	1.000	C
IFT172	26160	genome.wustl.edu	37	2	27684268	27684268	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:27684268G>A	ENST00000260570.3	-	22	2413	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	770					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTAGAGGCTGATGGCTGCTA	0.567																																																	0													105.0	99.0	101.0					2																	27684268		2203	4300	6503	SO:0001819	synonymous_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2310C>T	2.37:g.27684268G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.I770	ENST00000260570.3	37	c.2310	CCDS1755.1	2																																																																																			IFT172	-	superfamily_ARM-type_fold		0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	G	NM_015662		27684268	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	silent	SNP	1.000	A
IGF2BP1	10642	genome.wustl.edu	37	17	47074977	47074977	+	5'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:47074977C>T	ENST00000290341.3	+	0	204				IGF2BP1_ENST00000431824.2_5'Flank|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1						CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGACAACTTCTGGGGTGGGG	0.731																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0																																										SO:0001623	5_prime_UTR_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.-131C>T	17.37:g.47074977C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT33	RNA	SNP	-	NULL	ENST00000290341.3	37	NULL	CCDS11543.1	17																																																																																			IGF2BP1	-	-		0.731	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	C	NM_006546		47074977	+1	no_errors	ENST00000510023	ensembl	human	putative	70_37	rna	SNP	0.661	T
IGSF11	152404	genome.wustl.edu	37	3	118621521	118621521	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:118621521G>A	ENST00000393775.2	-	7	1447	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	IGSF11_ENST00000491903.1_Missense_Mutation_p.S353L|IGSF11_ENST00000489689.1_Missense_Mutation_p.S357L|IGSF11_ENST00000425327.2_Missense_Mutation_p.S380L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S356L|IGSF11_ENST00000354673.2_Missense_Mutation_p.S380L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	381					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACCTGTGGTGATGACCCTCT	0.522																																																	0													127.0	99.0	108.0					3																	118621521		2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1142C>T	3.37:g.118621521G>A	ENSP00000377370:p.Ser381Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S381L	ENST00000393775.2	37	c.1142	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624832	0.66901	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.86164	-1.17;-1.39;-2.08;-1.17;-2.02;-1.93	5.28	5.28	0.74379	.	1.599030	0.03474	N	0.214123	D	0.90403	0.6996	N	0.14661	0.345	0.52501	D	0.999956	D;P;P;P;P	0.76494	0.999;0.836;0.928;0.747;0.883	D;B;P;B;P	0.78314	0.991;0.399;0.714;0.327;0.522	T	0.80863	-0.1192	10	0.51188	T	0.08	.	18.0656	0.89389	0.0:0.0:1.0:0.0	.	353;356;380;357;381	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	380;381;357;380;356;353	ENSP00000406092:S380L;ENSP00000377370:S381L;ENSP00000420486:S357L;ENSP00000346700:S380L;ENSP00000401240:S356L;ENSP00000417413:S353L	ENSP00000346700:S380L	S	-	2	0	IGSF11	120104211	1.000000	0.71417	0.013000	0.15412	0.389000	0.30415	7.038000	0.76537	2.757000	0.94681	0.655000	0.94253	TCA	IGSF11	-	NULL		0.522	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	G			118621521	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	missense	SNP	0.515	A
IL36A	27179	genome.wustl.edu	37	2	113763630	113763630	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:113763630C>T	ENST00000259211.6	+	2	501	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	30					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						ACCAGACGCTCATAGCAGTCC	0.507																																																	0													74.0	78.0	77.0					2																	113763630		1997	4176	6173	SO:0001819	synonymous_variant	27179			AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.90C>T	2.37:g.113763630C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Silent	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1AB,prints_InterleukinIL1B	p.L30	ENST00000259211.6	37	c.90	CCDS42734.1	2																																																																																			IL36A	-	superfamily_Cytokine_IL1-like,smart_Interleukin_1		0.507	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36A	HGNC	protein_coding	OTTHUMT00000330711.1	C	NM_014440		113763630	+1	no_errors	ENST00000259211	ensembl	human	known	70_37	silent	SNP	0.004	T
IL4I1	259307	genome.wustl.edu	37	19	50399241	50399241	+	Missense_Mutation	SNP	C	C	T	rs141664132	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50399241C>T	ENST00000391826.2	-	3	225	c.83G>A	c.(82-84)cGc>cAc	p.R28H	IL4I1_ENST00000595948.1_Missense_Mutation_p.R50H|IL4I1_ENST00000341114.3_Missense_Mutation_p.R50H	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	28						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GTCTTGGCTGCGTTCAGCCTT	0.627																																																	0								C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	75.0	66.0	69.0		83,149	-10.6	0.0	19	dbSNP_134	69	1,8599		0,1,4299	yes	missense,missense	IL4I1	NM_152899.1,NM_172374.1	29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	28/568,50/590	50399241	3,13003	2203	4300	6503	SO:0001583	missense	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.83G>A	19.37:g.50399241C>T	ENSP00000375702:p.Arg28His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.R50H	ENST00000391826.2	37	c.149	CCDS12787.1	19	.	.	.	.	.	.	.	.	.	.	C	1.815	-0.473645	0.04414	4.54E-4	1.16E-4	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.31510	1.49;1.5	5.28	-10.6	0.00265	.	2.118710	0.01696	N	0.026917	T	0.06735	0.0172	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21930	-1.0231	10	0.12430	T	0.62	-9.5091	1.9497	0.03364	0.1934:0.2986:0.3717:0.1364	.	50;50;28	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	H	50;28	ENSP00000342557:R50H;ENSP00000375702:R28H	ENSP00000342557:R50H	R	-	2	0	IL4I1	55091053	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.012000	0.03649	-2.253000	0.00698	-1.170000	0.01741	CGC	IL4I1	-	NULL		0.627	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	C			50399241	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	missense	SNP	0.000	T
INPP4B	8821	genome.wustl.edu	37	4	143181669	143181669	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:143181669C>G	ENST00000513000.1	-	12	1097	c.664G>C	c.(664-666)Gat>Cat	p.D222H	INPP4B_ENST00000262992.4_Missense_Mutation_p.D222H|INPP4B_ENST00000509777.1_Missense_Mutation_p.D222H|INPP4B_ENST00000308502.4_Missense_Mutation_p.D222H|INPP4B_ENST00000508116.1_Missense_Mutation_p.D222H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	222					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGTAAGTTATCTTTTCCGCTC	0.294																																																	0													52.0	54.0	53.0					4																	143181669		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.664G>C	4.37:g.143181669C>G	ENSP00000425487:p.Asp222His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D222H	ENST00000513000.1	37	c.664	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075586	0.76415	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.52	5.52	0.82312	.	0.334050	0.29558	N	0.011815	T	0.44222	0.1283	L	0.38175	1.15	0.44309	D	0.997187	P;P	0.45212	0.853;0.776	P;P	0.52309	0.694;0.695	T	0.24870	-1.0148	10	0.51188	T	0.08	.	17.2219	0.86960	0.0:1.0:0.0:0.0	.	93;222	B7Z6T2;O15327	.;INP4B_HUMAN	H	222;222;222;93;222;222;37;37;222;93	ENSP00000425487:D222H;ENSP00000262992:D222H;ENSP00000308441:D222H;ENSP00000423954:D222H;ENSP00000422793:D222H;ENSP00000426207:D37H;ENSP00000427250:D222H;ENSP00000421065:D93H	ENSP00000262992:D222H	D	-	1	0	INPP4B	143401119	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	4.746000	0.62133	2.586000	0.87340	0.655000	0.94253	GAT	INPP4B	-	NULL		0.294	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143181669	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	missense	SNP	0.996	G
INSIG2	51141	genome.wustl.edu	37	2	118864263	118864263	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:118864263G>A	ENST00000245787.4	+	4	575				INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGAACAGATGATATTATTTG	0.348																																																	0													51.0	48.0	49.0					2																	118864263		2202	4299	6501	SO:0001627	intron_variant	51141			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.370-50G>A	2.37:g.118864263G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5W8|Q8TBI8	RNA	SNP	-	NULL	ENST00000245787.4	37	NULL	CCDS2122.1	2																																																																																			INSIG2	-	-		0.348	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	G	NM_016133		118864263	+1	no_errors	ENST00000479999	ensembl	human	known	70_37	rna	SNP	0.000	A
IPP	3652	genome.wustl.edu	37	1	46211870	46211870	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:46211870C>T	ENST00000396478.3	-	2	316	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTTGAGGACTCTTTCATTCCT	0.423																																																	0													89.0	86.0	87.0					1																	46211870		2203	4300	6503	SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.214G>A	1.37:g.46211870C>T	ENSP00000379739:p.Glu72Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E72K	ENST00000396478.3	37	c.214	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.508370	0.96386	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.75154	-0.91;-0.91	5.57	5.57	0.84162	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.91051	0.4878	10	0.87932	D	0	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	72;72	Q9Y573;A2A6V3	IPP_HUMAN;.	K	72	ENSP00000353024:E72K;ENSP00000379739:E72K	ENSP00000353024:E72K	E	-	1	0	IPP	45984457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.268000	0.78473	2.617000	0.88574	0.655000	0.94253	GAG	IPP	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.423	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	C	NM_005897		46211870	-1	no_errors	ENST00000396478	ensembl	human	known	70_37	missense	SNP	1.000	T
IQGAP2	10788	genome.wustl.edu	37	5	75757463	75757463	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:75757463G>A	ENST00000274364.6	+	2	412	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	39					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATTGCTTATGAATATCTGTG	0.438																																																	0													143.0	116.0	125.0					5																	75757463		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.115G>A	5.37:g.75757463G>A	ENSP00000274364:p.Glu39Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E39K	ENST00000274364.6	37	c.115	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908957	0.92107	.	.	ENSG00000145703	ENST00000274364;ENST00000514350	T;T	0.45668	0.89;0.89	4.05	4.05	0.47172	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.54856	0.762	T	0.50931	-0.8769	10	0.87932	D	0	-17.7416	15.5184	0.75842	0.0:0.0:1.0:0.0	.	39	Q13576	IQGA2_HUMAN	K	39;12	ENSP00000274364:E39K;ENSP00000423672:E12K	ENSP00000274364:E39K	E	+	1	0	IQGAP2	75793219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.062000	0.93920	2.267000	0.75376	0.491000	0.48974	GAA	IQGAP2	-	superfamily_CH-domain		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75757463	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	1.000	A
IREB2	3658	genome.wustl.edu	37	15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:78783062C>G	ENST00000258886.8	+	18	2432	c.2283C>G	c.(2281-2283)atC>atG	p.I761M		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398																																					NSCLC(200;764 2208 35157 49871 50830)												0													195.0	199.0	198.0					15																	78783062		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2283C>G	15.37:g.78783062C>G	ENSP00000258886:p.Ile761Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.I761M	ENST00000258886.8	37	c.2283	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449469	0.63178	.	.	ENSG00000136381	ENST00000258886	T	0.28255	1.62	6.07	-5.45	0.02616	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77365	-0.2615	10	0.87932	D	0	-14.0487	16.5189	0.84308	0.0:0.3072:0.0:0.6928	.	761	P48200	IREB2_HUMAN	M	761	ENSP00000258886:I761M	ENSP00000258886:I761M	I	+	3	3	IREB2	76570117	0.176000	0.23096	0.280000	0.24747	0.992000	0.81027	-0.651000	0.05372	-0.828000	0.04273	0.650000	0.86243	ATC	IREB2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2		0.398	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	C	NM_004136		78783062	+1	no_errors	ENST00000258886	ensembl	human	known	70_37	missense	SNP	0.300	G
IRF2BPL	64207	genome.wustl.edu	37	14	77492957	77492957	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:77492957C>T	ENST00000238647.3	-	1	2077	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	393					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGTGGTCCTTCTTGAAGCGAA	0.642																																																	0													53.0	43.0	46.0					14																	77492957		2203	4300	6503	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1179G>A	14.37:g.77492957C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.K393	ENST00000238647.3	37	c.1179	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.642	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	C	NM_024496		77492957	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	silent	SNP	1.000	T
ISG20L2	81875	genome.wustl.edu	37	1	156697518	156697518	+	5'UTR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:156697518C>G	ENST00000313146.6	-	0	709				ISG20L2_ENST00000368219.1_5'UTR|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2						ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTCATTCTCTGCTGAATCC	0.473																																																	0																																										SO:0001623	5_prime_UTR_variant	81875			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.-74G>C	1.37:g.156697518C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVC6|Q64KA2	RNA	SNP	-	NULL	ENST00000313146.6	37	NULL	CCDS1153.1	1																																																																																			ISG20L2	-	-		0.473	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1	C	NM_030980		156697518	-1	no_errors	ENST00000469074	ensembl	human	known	70_37	rna	SNP	0.348	G
ITGA9	3680	genome.wustl.edu	37	3	37785523	37785523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:37785523C>T	ENST00000264741.5	+	22	2687	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	811					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TATCACCCTTCAGGTACCCAC	0.547																																																	0													126.0	102.0	110.0					3																	37785523		2203	4300	6503	SO:0001587	stop_gained	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2431C>T	3.37:g.37785523C>T	ENSP00000264741:p.Gln811*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14638	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q811*	ENST00000264741.5	37	c.2431	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	C	43	9.837838	0.99276	.	.	ENSG00000144668	ENST00000264741	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.5829	0.91178	0.0:1.0:0.0:0.0	.	.	.	.	X	811	.	ENSP00000264741:Q811X	Q	+	1	0	ITGA9	37760527	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.900000	0.69853	2.745000	0.94114	0.655000	0.94253	CAG	ITGA9	-	pfam_Integrin_alpha-2		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	C	NM_002207		37785523	+1	no_errors	ENST00000264741	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ITGAM	3684	genome.wustl.edu	37	16	31336831	31336831	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31336831C>T	ENST00000287497.8	+	21	2591	c.2516C>T	c.(2515-2517)tCa>tTa	p.S839L	ITGAM_ENST00000544665.3_Missense_Mutation_p.S840L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	839					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AACCAGCGCTCACAGCGATCC	0.607																																																	0													62.0	66.0	65.0					16																	31336831		2087	4210	6297	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2516C>T	16.37:g.31336831C>T	ENSP00000287497:p.Ser839Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S840L	ENST00000287497.8	37	c.2519	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732449	0.30684	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.46819	0.86;0.86	4.87	0.511	0.16989	Integrin alpha-2 (1);	.	.	.	.	T	0.47488	0.1448	M	0.79475	2.455	0.09310	N	1	P;B;B	0.37276	0.589;0.005;0.005	B;B;B	0.43018	0.405;0.012;0.012	T	0.39057	-0.9632	9	0.30078	T	0.28	.	3.2256	0.06731	0.1674:0.4122:0.3256:0.0948	.	245;839;839	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	L	840;839	ENSP00000441691:S840L;ENSP00000287497:S839L	ENSP00000287497:S839L	S	+	2	0	ITGAM	31244332	0.001000	0.12720	0.001000	0.08648	0.225000	0.24961	1.035000	0.30216	0.646000	0.30693	0.558000	0.71614	TCA	ITGAM	-	pfam_Integrin_alpha-2		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	C	NM_000632		31336831	+1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	0.000	T
ITGB1BP2	26548	genome.wustl.edu	37	X	70524984	70524984	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70524984C>T	ENST00000373829.3	+	11	1059	c.986C>T	c.(985-987)tCa>tTa	p.S329L	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.S311L	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	329	Asp/Glu-rich (acidic).				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TCTGACGATTCAGATGATGAT	0.517																																																	0													71.0	56.0	61.0					X																	70524984		2203	4300	6503	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.986C>T	X.37:g.70524984C>T	ENSP00000362935:p.Ser329Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S329L	ENST00000373829.3	37	c.986	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716721	0.48622	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.84	4.84	0.62591	.	0.507421	0.19942	N	0.102633	T	0.50292	0.1607	L	0.47716	1.5	0.41763	D	0.989723	P;P	0.51791	0.948;0.948	P;B	0.45610	0.487;0.407	T	0.56086	-0.8037	9	0.66056	D	0.02	-8.2298	12.0355	0.53423	0.0:1.0:0.0:0.0	.	311;329	Q32N04;Q9UKP3	.;ITBP2_HUMAN	L	329;311	.	ENSP00000362935:S329L	S	+	2	0	ITGB1BP2	70441709	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.512000	0.45485	2.227000	0.72691	0.513000	0.50165	TCA	ITGB1BP2	-	NULL		0.517	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	C	NM_012278		70524984	+1	no_errors	ENST00000373829	ensembl	human	known	70_37	missense	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4776957	4776957	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:4776957G>A	ENST00000443694.2	+	41	5418	c.5418G>A	c.(5416-5418)atG>atA	p.M1806I	ITPR1_ENST00000423119.2_Missense_Mutation_p.M1773I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1806I|ITPR1_ENST00000302640.8_Missense_Mutation_p.M1806I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1773I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M1758I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1821					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACCTCATCATGAACGCATCCA	0.547																																																	0													130.0	129.0	129.0					3																	4776957		2058	4211	6269	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5418G>A	3.37:g.4776957G>A	ENSP00000401671:p.Met1806Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1806I	ENST00000443694.2	37	c.5418	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872465	0.33069	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.09	5.09	0.68999	.	0.078087	0.85682	D	0.000000	D	0.82421	0.5033	L	0.33245	0.995	0.80722	D	1	B;B	0.24823	0.001;0.112	B;B	0.28232	0.001;0.087	T	0.77164	-0.2688	10	0.19147	T	0.46	.	18.9273	0.92550	0.0:0.0:1.0:0.0	.	1821;1773	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1821;1806;1806;1773;267;1773;1758;1806	ENSP00000306253:M1806I;ENSP00000346595:M1806I;ENSP00000405934:M1773I;ENSP00000349597:M1773I;ENSP00000397885:M1758I;ENSP00000401671:M1806I	ENSP00000306253:M1806I	M	+	3	0	ITPR1	4751957	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.334000	0.96470	2.541000	0.85698	0.585000	0.79938	ATG	ITPR1	-	NULL		0.547	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4776957	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	A
ITPR1	3708	genome.wustl.edu	37	3	4887837	4887837	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:4887837G>C	ENST00000443694.2	+	59	8160	c.8160G>C	c.(8158-8160)agG>agC	p.R2720S	AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2687S|ITPR1_ENST00000544951.1_Missense_Mutation_p.R698S|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2720S|ITPR1_ENST00000302640.8_Missense_Mutation_p.R2720S|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2687S|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2672S|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2735					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGAACAAAGGAAGCAGAAAC	0.383																																																	0													83.0	79.0	80.0					3																	4887837		1883	4091	5974	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.8160G>C	3.37:g.4887837G>C	ENSP00000401671:p.Arg2720Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2720S	ENST00000443694.2	37	c.8160	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878017	0.72294	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.94330	-3.38;-3.39;-3.4;-3.4;-3.39;-1.66;-3.38	6.05	6.05	0.98169	.	0.046498	0.85682	D	0.000000	D	0.96288	0.8789	L	0.61218	1.895	0.50313	D	0.999867	D;P;D	0.71674	0.998;0.856;0.99	D;B;P	0.70935	0.971;0.219;0.856	D	0.95971	0.8970	10	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	698;2735;2687	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	S	2735;2720;2720;2687;1181;2687;2672;698;2720	ENSP00000306253:R2720S;ENSP00000346595:R2720S;ENSP00000405934:R2687S;ENSP00000349597:R2687S;ENSP00000397885:R2672S;ENSP00000440564:R698S;ENSP00000401671:R2720S	ENSP00000306253:R2720S	R	+	3	2	ITPR1	4862837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.033000	0.64146	2.878000	0.98634	0.650000	0.86243	AGG	ITPR1	-	NULL		0.383	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4887837	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	C
JARID2	3720	genome.wustl.edu	37	6	15496858	15496858	+	Missense_Mutation	SNP	G	G	A	rs200762091		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:15496858G>A	ENST00000341776.2	+	7	1646	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	JARID2_ENST00000541660.1_Missense_Mutation_p.E430K|JARID2_ENST00000397311.3_Missense_Mutation_p.E296K	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	468					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGCCCCGCCGAAGGCCCTGG	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.0																0								G	LYS/GLU	15,4333		0,15,2159	13.0	17.0	15.0		1402	3.3	0.3	6		15	0,8526		0,0,4263	yes	missense	JARID2	NM_004973.2	56	0,15,6422	AA,AG,GG		0.0,0.345,0.1165	probably-damaging	468/1247	15496858	15,12859	2174	4263	6437	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1402G>A	6.37:g.15496858G>A	ENSP00000341280:p.Glu468Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.E468K	ENST00000341776.2	37	c.1402	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036144	0.54896	0.00345	0.0	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89617	-1.89;-1.89;-2.54	5.13	3.29	0.37713	.	0.244689	0.38663	N	0.001605	T	0.81978	0.4937	L	0.29908	0.895	0.43613	D	0.995987	B;D;B	0.71674	0.007;0.998;0.002	B;P;B	0.55222	0.005;0.771;0.001	T	0.80703	-0.1264	10	0.33141	T	0.24	-4.5435	10.3482	0.43918	0.0741:0.1367:0.7893:0.0	.	430;332;468	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	K	332;468;296;430	ENSP00000341280:E468K;ENSP00000380478:E296K;ENSP00000444623:E430K	ENSP00000341280:E468K	E	+	1	0	JARID2	15604837	1.000000	0.71417	0.350000	0.25708	0.038000	0.13279	5.063000	0.64332	1.258000	0.44101	0.655000	0.94253	GAA	JARID2	-	NULL		0.662	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15496858	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	0.891	A
JMY	133746	genome.wustl.edu	37	5	78586979	78586979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:78586979C>T	ENST00000396137.4	+	4	1846	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	462					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCGAGCTGATCAGAAGAAATT	0.353																																																	0													73.0	69.0	70.0					5																	78586979		1849	4088	5937	SO:0001587	stop_gained	133746			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1384C>T	5.37:g.78586979C>T	ENSP00000379441:p.Gln462*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	pfscan_WH2_dom	p.Q462*	ENST00000396137.4	37	c.1384	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	C	42	9.805208	0.99268	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.45	0.53987	.	0.143577	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.675	0.62449	0.0:0.9252:0.0:0.0748	.	.	.	.	X	462	.	ENSP00000282259:Q462X	Q	+	1	0	JMY	78622735	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.030000	0.76484	1.230000	0.43646	0.555000	0.69702	CAG	JMY	-	NULL		0.353	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	C	NM_152405		78586979	+1	no_errors	ENST00000396137	ensembl	human	known	70_37	nonsense	SNP	1.000	T
JUND	3727	genome.wustl.edu	37	19	18391875	18391875	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:18391875G>T	ENST00000252818.3	-	1	557	c.420C>A	c.(418-420)ttC>ttA	p.F140L	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	140					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						GGGCCTTGACGAAGCCCTCGG	0.716																																																	0													17.0	18.0	17.0					19																	18391875		2199	4294	6493	SO:0001583	missense	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.420C>A	19.37:g.18391875G>T	ENSP00000252818:p.Phe140Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53EK9	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F140L	ENST00000252818.3	37	c.420	CCDS32959.1	19	.	.	.	.	.	.	.	.	.	.	.	24.2	4.501729	0.85176	.	.	ENSG00000130522	ENST00000252818	T	0.57436	0.4	3.06	0.86	0.19042	Jun-like transcription factor (1);	0.066751	0.64402	U	0.000011	T	0.61862	0.2381	M	0.83774	2.66	0.54753	D	0.999987	D	0.63046	0.992	P	0.56751	0.805	T	0.58457	-0.7633	10	0.41790	T	0.15	.	5.3357	0.15957	0.3966:0.0:0.6034:0.0	.	140	P17535	JUND_HUMAN	L	140	ENSP00000252818:F140L	ENSP00000252818:F140L	F	-	3	2	JUND	18252875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.649000	0.37281	0.177000	0.19895	0.537000	0.68136	TTC	JUND	-	pfam_JNK		0.716	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	G	NM_005354		18391875	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	missense	SNP	1.000	T
JUND	3727	genome.wustl.edu	37	19	18391926	18391926	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:18391926G>A	ENST00000252818.3	-	1	506	c.369C>T	c.(367-369)ttC>ttT	p.F123F	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	123					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TGGGGTAGAGGAACTGTGAGC	0.667																																																	0													16.0	17.0	16.0					19																	18391926		2199	4288	6487	SO:0001819	synonymous_variant	3727				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.369C>T	19.37:g.18391926G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53EK9	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.F123	ENST00000252818.3	37	c.369	CCDS32959.1	19																																																																																			JUND	-	pfam_JNK		0.667	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUND	HGNC	protein_coding	OTTHUMT00000466318.2	G	NM_005354		18391926	-1	no_errors	ENST00000252818	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNA2	3737	genome.wustl.edu	37	1	111147002	111147002	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:111147002C>T	ENST00000485317.1	-	3	1076	c.403G>A	c.(403-405)Gag>Aag	p.E135K	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.E135K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E135K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E135K			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	135					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CGCTCTTCCTCCTTGATGTAG	0.453																																					Pancreas(18;568 735 10587 23710 36357)												0													55.0	55.0	55.0					1																	111147002		2203	4300	6503	SO:0001583	missense	3737			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.403G>A	1.37:g.111147002C>T	ENSP00000433109:p.Glu135Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XG6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.E135K	ENST00000485317.1	37	c.403	CCDS827.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744707	0.69418	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96830	-1.45;-4.14;-4.14;-4.14	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	M	0.82823	2.61	0.80722	D	1	P;P	0.50617	0.935;0.937	P;P	0.50049	0.629;0.546	D	0.96988	0.9720	10	0.62326	D	0.03	.	20.3923	0.98948	0.0:1.0:0.0:0.0	.	135;135	Q86XG6;P16389	.;KCNA2_HUMAN	K	135	ENSP00000358785:E135K;ENSP00000433109:E135K;ENSP00000415257:E135K;ENSP00000314520:E135K	ENSP00000314520:E135K	E	-	1	0	KCNA2	110948525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	2.831000	0.97527	0.609000	0.83330	GAG	KCNA2	-	NULL		0.453	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	C	NM_004974		111147002	-1	no_errors	ENST00000316361	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNF1	3754	genome.wustl.edu	37	2	11053024	11053024	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:11053024G>A	ENST00000295082.1	+	1	962	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	158					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGACGCAGCCGAGGGCCGCTG	0.692																																																	0													27.0	37.0	33.0					2																	11053024		2194	4282	6476	SO:0001583	missense	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.472G>A	2.37:g.11053024G>A	ENSP00000295082:p.Glu158Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.E158K	ENST00000295082.1	37	c.472	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735422	0.49045	.	.	ENSG00000162975	ENST00000295082	D	0.98090	-4.71	5.19	4.29	0.51040	.	0.304686	0.35407	N	0.003234	D	0.94298	0.8168	L	0.39898	1.24	0.47994	D	0.999568	B	0.33857	0.429	B	0.24269	0.052	D	0.92909	0.6346	10	0.18276	T	0.48	.	15.8865	0.79255	0.0:0.1359:0.8641:0.0	.	158	Q9H3M0	KCNF1_HUMAN	K	158	ENSP00000295082:E158K	ENSP00000295082:E158K	E	+	1	0	KCNF1	10970475	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.603000	0.82811	1.267000	0.44247	0.563000	0.77884	GAG	KCNF1	-	NULL		0.692	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	G	NM_002236		11053024	+1	no_errors	ENST00000295082	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNH4	23415	genome.wustl.edu	37	17	40317508	40317508	+	Missense_Mutation	SNP	G	G	C	rs149532318		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:40317508G>C	ENST00000264661.3	-	11	2376	c.2044C>G	c.(2044-2046)Cgg>Ggg	p.R682G	KCNH4_ENST00000607371.1_Missense_Mutation_p.R682G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	682					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTGAGGTCCCGGGGCAGGCCA	0.627																																					NSCLC(117;707 1703 2300 21308 31858)												0													71.0	68.0	69.0					17																	40317508		2203	4300	6503	SO:0001583	missense	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2044C>G	17.37:g.40317508G>C	ENSP00000264661:p.Arg682Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R682G	ENST00000264661.3	37	c.2044	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	5.117	0.207128	0.09704	.	.	ENSG00000089558	ENST00000264661	D	0.98649	-5.05	3.92	2.95	0.34219	Cyclic nucleotide-binding-like (1);	0.000000	0.34802	N	0.003672	D	0.95799	0.8633	L	0.29908	0.895	0.40564	D	0.98123	B	0.11235	0.004	B	0.14023	0.01	D	0.93293	0.6670	10	0.29301	T	0.29	.	13.3217	0.60436	0.0:0.0:0.8407:0.1593	.	682	Q9UQ05	KCNH4_HUMAN	G	682	ENSP00000264661:R682G	ENSP00000264661:R682G	R	-	1	2	KCNH4	37571034	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.561000	0.60809	1.017000	0.39495	-0.226000	0.12346	CGG	KCNH4	-	superfamily_cNMP-bd-like		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	G	NM_012285		40317508	-1	no_errors	ENST00000264661	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNIP2	30819	genome.wustl.edu	37	10	103586855	103586855	+	3'UTR	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:103586855C>G	ENST00000356640.2	-	0	1343				KCNIP2_ENST00000348850.5_3'UTR|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000358038.3_3'UTR	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2						clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GAGGGGCACTCTCAACACTGG	0.592																																																	0																																										SO:0001624	3_prime_UTR_variant	30819				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.*255G>C	10.37:g.103586855C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	RNA	SNP	-	NULL	ENST00000356640.2	37	NULL	CCDS7522.1	10																																																																																			KCNIP2	-	-		0.592	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	KCNIP2	HGNC	protein_coding	OTTHUMT00000049973.1	C			103586855	-1	no_errors	ENST00000355657	ensembl	human	known	70_37	rna	SNP	0.000	G
KDM5C	8242	genome.wustl.edu	37	X	53223512	53223512	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:53223512C>T	ENST00000375401.3	-	23	4379	c.3847G>A	c.(3847-3849)Gag>Aag	p.E1283K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E1282K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1283K|KDM5C_ENST00000452825.3_Missense_Mutation_p.E1216K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1242K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1283					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGGCCCTCTCTGTGAGGCAC	0.672			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													24.0	22.0	23.0					X																	53223512		2203	4298	6501	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3847G>A	X.37:g.53223512C>T	ENSP00000364550:p.Glu1283Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1283K	ENST00000375401.3	37	c.3847	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577223	0.86645	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	M	0.85630	2.765	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00978	-1.1493	10	0.87932	D	0	-21.8272	14.4625	0.67459	0.0:1.0:0.0:0.0	.	1216;1282;1283	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	1216;1283;1282;1283;1242	ENSP00000445176:E1216K;ENSP00000364550:E1283K;ENSP00000385394:E1282K;ENSP00000364528:E1283K;ENSP00000364532:E1242K	ENSP00000364528:E1283K	E	-	1	0	KDM5C	53240237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	1.991000	0.58162	0.525000	0.51046	GAG	KDM5C	-	NULL		0.672	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	C	NM_004187		53223512	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0226	9711	genome.wustl.edu	37	3	197426070	197426070	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197426070C>T	ENST00000296343.5	-	7	1261				KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Intron|KIAA0226_ENST00000273582.5_Missense_Mutation_p.D372N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCAATGGGATCTTCAACTATA	0.468																																					Esophageal Squamous(3;167 355 3763 15924)												0													154.0	140.0	144.0					3																	197426070		692	1591	2283	SO:0001627	intron_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1261+1413G>A	3.37:g.197426070C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.D372N	ENST00000296343.5	37	c.1114	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.72|17.72	3.458525|3.458525	0.63401|0.63401	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582|ENST00000413360	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.59155|0.59155	0.2173|0.2173	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.52283|0.52283	-0.8596|-0.8596	8|5	0.32370|.	T|.	0.25|.	.|.	19.5998|19.5998	0.95557|0.95557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	265;372|.	Q5HYI6;Q92622-2|.	.;.|.	N|K	372|410	.|.	ENSP00000273582:D372N|.	D|R	-|-	1|2	0|0	KIAA0226|KIAA0226	198910467|198910467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.567000|7.567000	0.82357|0.82357	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GAT|AGA	KIAA0226	-	NULL		0.468	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	C	XM_032901		197426070	-1	no_errors	ENST00000273582	ensembl	human	putative	70_37	missense	SNP	1.000	T
KIAA0226L	80183	genome.wustl.edu	37	13	46942916	46942916	+	Silent	SNP	C	C	G	rs143042360	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:46942916C>G	ENST00000429979.1	-	4	1174	c.570G>C	c.(568-570)tcG>tcC	p.S190S	KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378781.3_Silent_p.S190S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000534925.1_Silent_p.S55S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343																																																	1	Substitution - coding silent(1)	large_intestine(1)											129.0	132.0	131.0					13																	46942916		2203	4300	6503	SO:0001819	synonymous_variant	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.570G>C	13.37:g.46942916C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.S190	ENST00000429979.1	37	c.570	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL		0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	C	NM_025113		46942916	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	silent	SNP	0.985	G
KIAA0556	23247	genome.wustl.edu	37	16	27751796	27751796	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:27751796C>T	ENST00000261588.4	+	15	2197	c.2178C>T	c.(2176-2178)gtC>gtT	p.V726V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	726						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCCTCCTGTCCATGAGGAGC	0.547																																																	0													63.0	60.0	61.0					16																	27751796		2197	4300	6497	SO:0001819	synonymous_variant	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2178C>T	16.37:g.27751796C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	Silent	SNP	superfamily_Thaumatin	p.V726	ENST00000261588.4	37	c.2178	CCDS32415.1	16																																																																																			KIAA0556	-	NULL		0.547	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27751796	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	silent	SNP	0.000	T
KIAA0907	22889	genome.wustl.edu	37	1	155899505	155899505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155899505C>A	ENST00000368321.3	-	3	405	c.382G>T	c.(382-384)Gag>Tag	p.E128*	KIAA0907_ENST00000368319.3_Nonsense_Mutation_p.E128*|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.E128*	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	128							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTCCTCACCTCGTCTTGAGTC	0.453																																																	0													139.0	122.0	128.0					1																	155899505		2203	4300	6503	SO:0001587	stop_gained	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.382G>T	1.37:g.155899505C>A	ENSP00000357304:p.Glu128*	Somatic		WXS	Illumina HiSeq	Phase_IV	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	NULL	p.E128*	ENST00000368321.3	37	c.382	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406573	0.83230	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.3765	18.0796	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000357302:E128X	E	-	1	0	KIAA0907	154166129	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.298000	0.78815	2.666000	0.90696	0.563000	0.77884	GAG	KIAA0907	-	NULL		0.453	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	C	NM_014949		155899505	-1	no_errors	ENST00000368321	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIAA0907	22889	genome.wustl.edu	37	1	155899522	155899522	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155899522C>A	ENST00000368321.3	-	3	388	c.365G>T	c.(364-366)cGa>cTa	p.R122L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R122L|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.R122L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	122							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AGTCTGTCCTCGAGTCAGCAA	0.478																																																	0													145.0	129.0	134.0					1																	155899522		2203	4300	6503	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.365G>T	1.37:g.155899522C>A	ENSP00000357304:p.Arg122Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.R122L	ENST00000368321.3	37	c.365	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.210283	0.95069	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.47528	0.84;0.84;0.84	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.996;0.997;0.996;0.991	D;D;P;P;D;P	0.66196	0.909;0.942;0.908;0.834;0.937;0.885	T	0.65829	-0.6073	10	0.66056	D	0.02	-8.9897	18.7817	0.91934	0.0:1.0:0.0:0.0	.	122;122;122;122;122;122	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	L	122	ENSP00000357304:R122L;ENSP00000357303:R122L;ENSP00000357302:R122L	ENSP00000357302:R122L	R	-	2	0	KIAA0907	154166146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.298000	0.78815	2.767000	0.95098	0.563000	0.77884	CGA	KIAA0907	-	NULL		0.478	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	C	NM_014949		155899522	-1	no_errors	ENST00000368321	ensembl	human	known	70_37	missense	SNP	1.000	A
ICE1	23379	genome.wustl.edu	37	5	5464406	5464406	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:5464406G>A	ENST00000296564.7	+	13	5181	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1653	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGTCTCCACTGATATCGAGTT	0.562																																																	0													180.0	189.0	186.0					5																	5464406		2057	4204	6261	SO:0001819	synonymous_variant	23379																														ENST00000296564.7:c.4959G>A	5.37:g.5464406G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.L1653	ENST00000296564.7	37	c.4959	CCDS47187.1	5																																																																																			KIAA0947	-	NULL		0.562	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	G			5464406	+1	no_errors	ENST00000296564	ensembl	human	known	70_37	silent	SNP	0.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105520052	105520052	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:105520052G>A	ENST00000332180.5	+	12	1037	c.950G>A	c.(949-951)gGa>gAa	p.G317E		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGTATGTTGGAATTTGTGGA	0.303																																																	0													133.0	124.0	126.0					12																	105520052		1819	4074	5893	SO:0001583	missense	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.950G>A	12.37:g.105520052G>A	ENSP00000328062:p.Gly317Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G317E	ENST00000332180.5	37	c.950	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317540	0.81469	.	.	ENSG00000136051	ENST00000332180	T	0.34667	1.35	5.66	5.66	0.87406	.	0.227351	0.43747	D	0.000540	T	0.56558	0.1993	M	0.79475	2.455	0.58432	D	0.999998	P;P	0.50272	0.933;0.933	P;P	0.54174	0.744;0.744	T	0.53989	-0.8360	10	0.36615	T	0.2	.	19.7416	0.96232	0.0:0.0:1.0:0.0	.	317;317	B7ZKT9;Q2M389	.;WASH7_HUMAN	E	317	ENSP00000328062:G317E	ENSP00000328062:G317E	G	+	2	0	KIAA1033	104044182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.459000	0.66685	2.642000	0.89623	0.650000	0.86243	GGA	KIAA1033	-	NULL		0.303	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105520052	+1	no_errors	ENST00000332180	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1462	57608	genome.wustl.edu	37	10	30315291	30315291	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30315291C>T	ENST00000375377.1	-	3	3887	c.3786G>A	c.(3784-3786)atG>atA	p.M1262I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1262					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCACCTCTTTCATTCTCATCA	0.542																																																	0													56.0	54.0	55.0					10																	30315291		1958	4148	6106	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3786G>A	10.37:g.30315291C>T	ENSP00000364526:p.Met1262Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.M1262I	ENST00000375377.1	37	c.3786	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684101	0.88639	.	.	ENSG00000165757	ENST00000375377	T	0.20463	2.07	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.70275	2.135	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.49643	-0.8918	10	0.87932	D	0	-31.6339	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1262	Q9P266	K1462_HUMAN	I	1262	ENSP00000364526:M1262I	ENSP00000364526:M1262I	M	-	3	0	KIAA1462	30355297	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.938000	0.75904	2.557000	0.86248	0.655000	0.94253	ATG	KIAA1462	-	NULL		0.542	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315291	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1462	57608	genome.wustl.edu	37	10	30316406	30316406	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30316406C>T	ENST00000375377.1	-	3	2772	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	891					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGTGGCTCAACCCTCATT	0.622																																																	0													62.0	68.0	66.0					10																	30316406		2112	4220	6332	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2671G>A	10.37:g.30316406C>T	ENSP00000364526:p.Glu891Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E891K	ENST00000375377.1	37	c.2671	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884117	0.17467	.	.	ENSG00000165757	ENST00000375377	T	0.12255	2.7	5.26	3.4	0.38934	.	0.868989	0.10389	N	0.680624	T	0.12774	0.0310	L	0.43152	1.355	0.09310	N	1	B	0.20550	0.046	B	0.20955	0.032	T	0.33523	-0.9865	10	0.26408	T	0.33	-4.2652	8.9483	0.35773	0.0:0.7724:0.0:0.2276	.	891	Q9P266	K1462_HUMAN	K	891	ENSP00000364526:E891K	ENSP00000364526:E891K	E	-	1	0	KIAA1462	30356412	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.466000	0.06672	0.615000	0.30124	0.655000	0.94253	GAG	KIAA1462	-	NULL		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316406	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.001	T
KIAA1462	57608	genome.wustl.edu	37	10	30316418	30316418	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:30316418C>T	ENST00000375377.1	-	3	2760	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	887					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCTCATTTCCGGGCTGTTT	0.617																																																	0													63.0	69.0	67.0					10																	30316418		2117	4232	6349	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2659G>A	10.37:g.30316418C>T	ENSP00000364526:p.Glu887Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E887K	ENST00000375377.1	37	c.2659	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962583	0.34659	.	.	ENSG00000165757	ENST00000375377	T	0.13778	2.56	5.26	4.32	0.51571	.	0.492142	0.20907	N	0.083522	T	0.21841	0.0526	L	0.46157	1.445	0.09310	N	1	D	0.53462	0.96	P	0.52217	0.693	T	0.06588	-1.0818	10	0.30078	T	0.28	-6.3512	15.4681	0.75419	0.0:0.8607:0.1393:0.0	.	887	Q9P266	K1462_HUMAN	K	887	ENSP00000364526:E887K	ENSP00000364526:E887K	E	-	1	0	KIAA1462	30356424	0.952000	0.32445	0.001000	0.08648	0.002000	0.02628	3.855000	0.55957	1.164000	0.42652	0.655000	0.94253	GAA	KIAA1462	-	NULL		0.617	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30316418	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.006	T
KIAA1549L	25758	genome.wustl.edu	37	11	33583270	33583270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:33583270G>A	ENST00000321505.4	+	7	3356	c.3176G>A	c.(3175-3177)tGg>tAg	p.W1059*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.W1065*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.W1065*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1059						integral component of membrane (GO:0016021)											AGAGACTATTGGGTAATTACA	0.318																																																	0													110.0	111.0	111.0					11																	33583270		1809	4077	5886	SO:0001587	stop_gained	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3176G>A	11.37:g.33583270G>A	ENSP00000315295:p.Trp1059*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYU0	Nonsense_Mutation	SNP	NULL	p.W1065*	ENST00000321505.4	37	c.3194	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.396336|10.396336	0.99397|0.99397	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.49677|.	0.1571|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38585|.	-0.9654|.	3|.	.|0.02654	.|T	.|1	-9.9885|-9.9885	20.2985|20.2985	0.98592|0.98592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	457|1059;1065;1065;898	.|.	.|ENSP00000265654:W1065X	G|W	+|+	1|2	0|0	C11orf41|C11orf41	33539846|33539846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.704000|0.704000	0.40688|0.40688	8.921000|8.921000	0.92784|0.92784	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|TGG	KIAA1549L	-	NULL		0.318	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	G	NM_012194		33583270	+1	no_errors	ENST00000389726	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIAA1755	85449	genome.wustl.edu	37	20	36856603	36856603	+	Silent	SNP	G	G	A	rs112826952	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:36856603G>A	ENST00000279024.4	-	6	2182	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	637										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTCTCCTGGCGTCAATCAGGA	0.622																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	43.0	40.0	41.0		1911	1.3	0.7	20	dbSNP_132	41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1755	NM_001029864.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		637/1201	36856603	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1911C>T	20.37:g.36856603G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.D637	ENST00000279024.4	37	c.1911	CCDS33467.1	20																																																																																			KIAA1755	-	superfamily_CRAL-TRIO_dom		0.622	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	G	NM_001029864		36856603	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	silent	SNP	0.987	A
KIF11	3832	genome.wustl.edu	37	10	94368777	94368777	+	Splice_Site	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:94368777G>C	ENST00000260731.3	+	5	478	c.388G>C	c.(388-390)Gat>Cat	p.D130H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAATTTCAGGATCCCTTGGC	0.333																																					Colon(47;212 1003 2764 4062 8431)												0													41.0	44.0	43.0					10																	94368777		2201	4299	6500	SO:0001630	splice_region_variant	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.388-1G>C	10.37:g.94368777G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D130H	ENST00000260731.3	37	c.388	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629011	0.87560	.	.	ENSG00000138160	ENST00000260731	T	0.75704	-0.96	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84648	0.0699	9	.	.	.	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	130	P52732	KIF11_HUMAN	H	130	ENSP00000260731:D130H	.	D	+	1	0	KIF11	94358757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.401000	0.97294	2.880000	0.98712	0.650000	0.86243	GAT	KIF11	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523	Missense_Mutation	94368777	+1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF1A	547	genome.wustl.edu	37	2	241696839	241696839	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:241696839C>T	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E919K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		tcctcctcctcatcctcctcc	0.682																																																	0																																										SO:0001627	intron_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+937G>A	2.37:g.241696839C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E919K	ENST00000320389.7	37	c.2755	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720747	0.48728	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73363	-0.66;-0.74	3.63	3.63	0.41609	.	.	.	.	.	T	0.63236	0.2494	.	.	.	0.43321	D	0.995343	B;B	0.34290	0.397;0.447	B;B	0.35278	0.199;0.081	T	0.59418	-0.7458	8	0.19590	T	0.45	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	919;919	F5H045;Q12756-2	.;.	K	919	ENSP00000438388:E919K;ENSP00000384231:E919K	ENSP00000362405:E919K	E	-	1	0	KIF1A	241345512	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.751000	0.68720	1.577000	0.49804	0.462000	0.41574	GAG	KIF1A	-	NULL		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241696839	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10328298	10328298	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:10328298G>A	ENST00000377086.1	+	7	899	c.697G>A	c.(697-699)Gag>Aag	p.E233K	KIF1B_ENST00000377093.4_Missense_Mutation_p.E233K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E233K|KIF1B_ENST00000377083.1_Missense_Mutation_p.E233K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E233K			O60333	KIF1B_HUMAN	kinesin family member 1B	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACACGATAATGAGACCAACCT	0.433																																																	0													92.0	79.0	84.0					1																	10328298		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.697G>A	1.37:g.10328298G>A	ENSP00000366290:p.Glu233Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E233K	ENST00000377086.1	37	c.697		1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926631	0.73327	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.052117	0.85682	D	0.000000	D	0.84234	0.5427	L	0.35414	1.06	0.58432	D	0.999998	B;B;B;B;B;B;B	0.29646	0.002;0.003;0.003;0.041;0.002;0.253;0.02	B;B;B;B;B;B;B	0.24155	0.002;0.005;0.002;0.014;0.003;0.051;0.009	T	0.79458	-0.1795	10	0.25106	T	0.35	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	233;233;233;233;233;233;233	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	K	233	ENSP00000263934:E233K;ENSP00000366297:E233K;ENSP00000366290:E233K;ENSP00000366287:E233K;ENSP00000366284:E233K	ENSP00000263934:E233K	E	+	1	0	KIF1B	10250885	1.000000	0.71417	0.970000	0.41538	0.981000	0.71138	7.935000	0.87658	2.820000	0.97059	0.650000	0.86243	GAG	KIF1B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.433	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10328298	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF3B	9371	genome.wustl.edu	37	20	30918001	30918001	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:30918001G>A	ENST00000375712.3	+	8	2193	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	KIF3B_ENST00000418717.2_Missense_Mutation_p.E302K	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	676	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAGACTATGAGGGTCCAGC	0.542																																																	0													68.0	62.0	64.0					20																	30918001		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2026G>A	20.37:g.30918001G>A	ENSP00000364864:p.Glu676Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E676K	ENST00000375712.3	37	c.2026	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079638	0.76528	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.75050	-0.9;0.38	4.62	4.62	0.57501	.	0.058459	0.64402	D	0.000002	T	0.73063	0.3539	M	0.75264	2.295	0.58432	D	0.999996	B;P	0.39282	0.356;0.666	B;B	0.33339	0.115;0.162	T	0.77191	-0.2678	10	0.44086	T	0.13	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	302;676	B4DSR5;O15066	.;KIF3B_HUMAN	K	676;302	ENSP00000364864:E676K;ENSP00000406287:E302K	ENSP00000364864:E676K	E	+	1	0	KIF3B	30381662	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	5.776000	0.68924	2.559000	0.86315	0.655000	0.94253	GAG	KIF3B	-	NULL		0.542	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	G	NM_004798		30918001	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	0.998	A
KIF4B	285643	genome.wustl.edu	37	5	154396407	154396407	+	Silent	SNP	C	C	T	rs372105918		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:154396407C>T	ENST00000435029.4	+	1	3148	c.2988C>T	c.(2986-2988)ctC>ctT	p.L996L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	996	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACTGATCCTCCTCCAGGTAG	0.438																																																	0								C		0,4406		0,0,2203	157.0	160.0	159.0		2988	-0.4	0.6	5		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF4B	NM_001099293.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		996/1235	154396407	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2988C>T	5.37:g.154396407C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L996	ENST00000435029.4	37	c.2988	CCDS47324.1	5																																																																																			KIF4B	-	NULL		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154396407	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	silent	SNP	0.997	T
KLC3	147700	genome.wustl.edu	37	19	45849946	45849946	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:45849946G>C	ENST00000391946.2	+	3	505	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	KLC3_ENST00000585434.1_Missense_Mutation_p.E135Q|KLC3_ENST00000470402.1_Missense_Mutation_p.E149Q	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	135					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCAGCGAGGAGTCCGTGGC	0.721																																																	0													5.0	7.0	6.0					19																	45849946		2041	4140	6181	SO:0001583	missense	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.403G>C	19.37:g.45849946G>C	ENSP00000375810:p.Glu135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E149Q	ENST00000391946.2	37	c.445	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	4.901	0.167423	0.09339	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.39406	1.08;1.08	4.26	4.26	0.50523	Rabaptin, GTPase-Rab5 binding (1);	0.081164	0.50627	D	0.000109	T	0.12774	0.0310	N	0.01086	-1.025	0.42012	D	0.990941	B;B;B	0.13594	0.002;0.006;0.008	B;B;B	0.13407	0.005;0.005;0.009	T	0.26573	-1.0099	10	0.02654	T	1	-30.6325	10.4151	0.44316	0.0:0.1991:0.8009:0.0	.	135;149;135	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	Q	135;149	ENSP00000375810:E135Q;ENSP00000436019:E149Q	ENSP00000375810:E135Q	E	+	1	0	KLC3	50541786	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	3.551000	0.53698	2.390000	0.81377	0.455000	0.32223	GAG	KLC3	-	pfam_Rabaptin_Rab5-bd_dom		0.721	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	G	NM_145275		45849946	+1	no_errors	ENST00000470402	ensembl	human	known	70_37	missense	SNP	1.000	C
KLF8	11279	genome.wustl.edu	37	X	56292146	56292146	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:56292146C>T	ENST00000468660.1	+	3	903	c.615C>T	c.(613-615)ctC>ctT	p.L205L	KLF8_ENST00000374928.3_Silent_p.L205L	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CAGTCCCACTCATTGGAGGAG	0.493																																																	0													56.0	48.0	50.0					X																	56292146		2203	4300	6503	SO:0001819	synonymous_variant	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.615C>T	X.37:g.56292146C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L205	ENST00000468660.1	37	c.615	CCDS14373.1	X																																																																																			KLF8	-	NULL		0.493	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF8	HGNC	protein_coding	OTTHUMT00000056887.2	C	NM_007250		56292146	+1	no_errors	ENST00000468660	ensembl	human	known	70_37	silent	SNP	1.000	T
KLHL38	340359	genome.wustl.edu	37	8	124664078	124664078	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:124664078C>G	ENST00000325995.7	-	1	1112	c.1089G>C	c.(1087-1089)tgG>tgC	p.W363C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	363										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCCCCAGCCTCCACTGATTGA	0.577																																																	0													62.0	64.0	63.0					8																	124664078		2018	4190	6208	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1089G>C	8.37:g.124664078C>G	ENSP00000321475:p.Trp363Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W363C	ENST00000325995.7	37	c.1089	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496168	0.64186	.	.	ENSG00000175946	ENST00000325995	T	0.79352	-1.26	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.107851	0.64402	D	0.000002	D	0.90601	0.7053	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92323	0.5867	10	0.87932	D	0	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	363	Q2WGJ6	KLH38_HUMAN	C	363	ENSP00000321475:W363C	ENSP00000321475:W363C	W	-	3	0	KLHL38	124733259	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.729000	0.84864	2.571000	0.86741	0.561000	0.74099	TGG	KLHL38	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664078	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHL5	51088	genome.wustl.edu	37	4	39077739	39077739	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:39077739G>A	ENST00000504108.1	+	2	959	c.676G>A	c.(676-678)Gct>Act	p.A226T	KLHL5_ENST00000508137.2_Missense_Mutation_p.A39T|KLHL5_ENST00000261425.3_Missense_Mutation_p.A180T|KLHL5_ENST00000359687.2_Missense_Mutation_p.A226T|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.A226T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	226	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AATTTTAGTCGCTGGTGATCG	0.338																																																	0													70.0	69.0	70.0					4																	39077739		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.676G>A	4.37:g.39077739G>A	ENSP00000423897:p.Ala226Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A226T	ENST00000504108.1	37	c.676	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979791	0.92982	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.13	5.13	0.70059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.097896	0.64402	D	0.000001	D	0.82733	0.5101	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.935	D	0.84054	0.0371	10	0.62326	D	0.03	.	18.9314	0.92568	0.0:0.0:1.0:0.0	.	226;226	Q96PQ7;Q96PQ7-2	KLHL5_HUMAN;.	T	260;180;39;226;226;226	ENSP00000261425:A180T;ENSP00000423080:A39T;ENSP00000423897:A226T;ENSP00000352716:A226T;ENSP00000371355:A226T	ENSP00000261425:A180T	A	+	1	0	KLHL5	38754134	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.813000	0.99286	2.560000	0.86352	0.467000	0.42956	GCT	KLHL5	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.338	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	G			39077739	+1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL5	51088	genome.wustl.edu	37	4	39104955	39104955	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:39104955C>T	ENST00000504108.1	+	7	1770	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	KLHL5_ENST00000508137.2_Missense_Mutation_p.P309L|KLHL5_ENST00000261425.3_Missense_Mutation_p.P450L|KLHL5_ENST00000359687.2_Missense_Mutation_p.P496L|KLHL5_ENST00000261426.5_Missense_Mutation_p.P435L|KLHL5_ENST00000381930.3_Missense_Mutation_p.P496L	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	496						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGTGGACTCCAGTAGCAAAT	0.378																																																	0													98.0	94.0	95.0					4																	39104955		2203	4300	6503	SO:0001583	missense	51088			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1487C>T	4.37:g.39104955C>T	ENSP00000423897:p.Pro496Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.P496L	ENST00000504108.1	37	c.1487	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649169	0.29336	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.66	4.8	0.61643	Galactose oxidase, beta-propeller (1);	0.101210	0.64402	D	0.000001	T	0.63034	0.2477	N	0.11927	0.2	0.80722	D	1	B;P;B	0.34684	0.01;0.463;0.248	B;B;B	0.37422	0.01;0.247;0.249	T	0.60393	-0.7272	10	0.10111	T	0.7	.	16.7435	0.85466	0.0:0.8707:0.1293:0.0	.	435;496;496	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	L	530;450;309;496;496;496;435;90	ENSP00000261425:P450L;ENSP00000423080:P309L;ENSP00000423897:P496L;ENSP00000352716:P496L;ENSP00000371355:P496L;ENSP00000261426:P435L	ENSP00000261425:P450L	P	+	2	0	KLHL5	38781350	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	5.142000	0.64820	1.492000	0.48499	0.655000	0.94253	CCA	KLHL5	-	pfam_Kelch_1,smart_Kelch_1		0.378	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	C			39104955	+1	no_errors	ENST00000359687	ensembl	human	known	70_37	missense	SNP	1.000	T
KNG1	3827	genome.wustl.edu	37	3	186456902	186456902	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:186456902G>A	ENST00000265023.4	+	8	1157	c.945G>A	c.(943-945)aaG>aaA	p.K315K	KNG1_ENST00000447445.1_Silent_p.K279K|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Silent_p.K315K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	315	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTGGCAAGAAATATTTTA	0.348																																																	0													61.0	64.0	63.0					3																	186456902		2203	4300	6503	SO:0001819	synonymous_variant	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.945G>A	3.37:g.186456902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.K315	ENST00000265023.4	37	c.945	CCDS43183.1	3																																																																																			KNG1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.348	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	G	NM_001102416		186456902	+1	no_errors	ENST00000265023	ensembl	human	known	70_37	silent	SNP	0.000	A
KREMEN1	83999	genome.wustl.edu	37	22	29536304	29536304	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:29536304C>T	ENST00000407188.1	+	8	1203	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KREMEN1_ENST00000327813.5_Silent_p.I403I|KREMEN1_ENST00000400338.2_Silent_p.I403I|KREMEN1_ENST00000400335.4_Silent_p.I386I			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	401					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCTCCTCATCCTCACAGTCA	0.488																																																	0													135.0	133.0	133.0					22																	29536304		1998	4173	6171	SO:0001819	synonymous_variant	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1203C>T	22.37:g.29536304C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Silent	SNP	pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd	p.I403	ENST00000407188.1	37	c.1209	CCDS43000.2	22																																																																																			KREMEN1	-	pirsf_Kremen		0.488	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	C			29536304	+1	no_errors	ENST00000327813	ensembl	human	known	70_37	silent	SNP	1.000	T
KRT86	3892	genome.wustl.edu	37	12	52647456	52647456	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:52647456C>T	ENST00000544024.1	+	1	129				KRT121P_ENST00000529785.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTTTGATCTCAGTGATGACA	0.587																																																	0																																										SO:0001627	intron_variant	85349			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000544024.1:c.-5+4244C>T	12.37:g.52647456C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78387	RNA	SNP	-	NULL	ENST00000544024.1	37	NULL	CCDS41785.1	12																																																																																			KRT121P	-	-		0.587	KRT86-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT121P	HGNC	protein_coding		C	NM_002284		52647456	-1	no_errors	ENST00000529785	ensembl	human	known	70_37	rna	SNP	1.000	T
KRT75	9119	genome.wustl.edu	37	12	52825340	52825340	+	Nonsense_Mutation	SNP	G	G	T	rs371899596		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:52825340G>T	ENST00000252245.5	-	4	1077	c.857C>A	c.(856-858)tCa>tAa	p.S286*		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	286	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATCAAAGACTGAGTGGATGAA	0.478																																																	0													167.0	143.0	151.0					12																	52825340		2203	4300	6503	SO:0001587	stop_gained	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.857C>A	12.37:g.52825340G>T	ENSP00000252245:p.Ser286*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQU4|Q9NSA9	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S286*	ENST00000252245.5	37	c.857	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880524	0.72294	.	.	ENSG00000170454	ENST00000252245	.	.	.	5.95	2.33	0.28932	.	0.426103	0.22431	N	0.060152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.2271	0.15401	0.6047:0.1527:0.2426:0.0	.	.	.	.	X	286	.	ENSP00000252245:S286X	S	-	2	0	KRT75	51111607	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.167000	0.16602	0.519000	0.28406	-0.302000	0.09304	TCA	KRT75	-	pfam_F		0.478	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	G	NM_004693		52825340	-1	no_errors	ENST00000252245	ensembl	human	known	70_37	nonsense	SNP	0.000	T
KRTAP10-8	386681	genome.wustl.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:46032136C>T	ENST00000334662.2	+	1	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	40	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642																																																	0													83.0	75.0	78.0					21																	46032136		2203	4300	6503	SO:0001583	missense	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.119C>T	21.37:g.46032136C>T	ENSP00000335565:p.Ser40Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNW4	Missense_Mutation	SNP	pfam_PMG	p.S40F	ENST00000334662.2	37	c.119	CCDS13713.1	21	.	.	.	.	.	.	.	.	.	.	c	12.07	1.826334	0.32329	.	.	ENSG00000187766	ENST00000334662	T	0.16743	2.32	3.46	3.46	0.39613	.	.	.	.	.	T	0.44644	0.1303	M	0.87682	2.9	0.33537	D	0.59438	D	0.76494	0.999	D	0.87578	0.998	T	0.62520	-0.6837	9	0.72032	D	0.01	.	10.7826	0.46386	0.0:1.0:0.0:0.0	.	40	P60410	KR108_HUMAN	F	40	ENSP00000335565:S40F	ENSP00000335565:S40F	S	+	2	0	KRTAP10-8	44856564	0.589000	0.26807	0.985000	0.45067	0.043000	0.13939	1.233000	0.32648	1.652000	0.50683	0.467000	0.42956	TCC	KRTAP10-8	-	pfam_PMG		0.642	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-8	HGNC	protein_coding	OTTHUMT00000128035.1	C	NM_198695		46032136	+1	no_errors	ENST00000334662	ensembl	human	known	70_37	missense	SNP	0.999	T
KTI12	112970	genome.wustl.edu	37	1	52499064	52499064	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:52499064C>T	ENST00000371614.1	-	1	424	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	124							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCAGGGTTCTCGTTCGCGCCC	0.721																																																	0													32.0	38.0	36.0					1																	52499064		2202	4295	6497	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.370G>A	1.37:g.52499064C>T	ENSP00000360676:p.Glu124Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Chromatin_KTI12	p.E124K	ENST00000371614.1	37	c.370	CCDS562.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208763	0.39003	.	.	ENSG00000198841	ENST00000371614	T	0.51071	0.72	3.83	0.912	0.19349	.	.	.	.	.	T	0.30759	0.0775	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.22800	-1.0206	9	0.16896	T	0.51	.	4.7749	0.13175	0.1707:0.639:0.0:0.1903	.	124	Q96EK9	KTI12_HUMAN	K	124	ENSP00000360676:E124K	ENSP00000360676:E124K	E	-	1	0	KTI12	52271652	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.383000	0.20651	0.216000	0.20781	-0.841000	0.03054	GAG	KTI12	-	pfam_Chromatin_KTI12		0.721	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KTI12	HGNC	protein_coding	OTTHUMT00000023821.1	C	NM_138417		52499064	-1	no_errors	ENST00000371614	ensembl	human	known	70_37	missense	SNP	0.001	T
LAMB2	3913	genome.wustl.edu	37	3	49161197	49161197	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49161197G>A	ENST00000418109.1	-	25	3925	c.3761C>T	c.(3760-3762)tCc>tTc	p.S1254F	USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1254F|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1254	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTGCAGTGGAGGCGGCTGA	0.627																																																	0													34.0	37.0	36.0					3																	49161197		2202	4298	6500	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3761C>T	3.37:g.49161197G>A	ENSP00000388325:p.Ser1254Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1254F	ENST00000418109.1	37	c.3761	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940314	0.52972	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.36520	1.25;1.25	5.69	5.69	0.88448	.	0.240489	0.41712	D	0.000824	T	0.35682	0.0940	L	0.40543	1.245	0.53005	D	0.999961	B	0.10296	0.003	B	0.08055	0.003	T	0.07770	-1.0755	10	0.56958	D	0.05	.	19.815	0.96564	0.0:0.0:1.0:0.0	.	1254	P55268	LAMB2_HUMAN	F	1254;1254;21	ENSP00000388325:S1254F;ENSP00000307156:S1254F	ENSP00000307156:S1254F	S	-	2	0	LAMB2	49136201	0.998000	0.40836	0.324000	0.25361	0.995000	0.86356	6.579000	0.74036	2.681000	0.91329	0.561000	0.74099	TCC	LAMB2	-	NULL		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49161197	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	0.935	A
LAMB2	3913	genome.wustl.edu	37	3	49162313	49162313	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49162313G>C	ENST00000418109.1	-	22	3094	c.2930C>G	c.(2929-2931)tCa>tGa	p.S977*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.S977*|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	977	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGGCCTTGATGGGTCCCC	0.607																																																	0													82.0	74.0	76.0					3																	49162313		2203	4300	6503	SO:0001587	stop_gained	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2930C>G	3.37:g.49162313G>C	ENSP00000388325:p.Ser977*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S977*	ENST00000418109.1	37	c.2930	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.126191	0.98081	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	.	.	.	5.7	2.8	0.32819	.	0.303789	0.32884	N	0.005539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	1.6749	0.02820	0.2567:0.1476:0.4448:0.151	.	.	.	.	X	977	.	ENSP00000307156:S977X	S	-	2	0	LAMB2	49137317	0.000000	0.05858	0.974000	0.42286	0.972000	0.66771	0.632000	0.24583	1.430000	0.47334	0.561000	0.74099	TCA	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49162313	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	nonsense	SNP	0.003	C
LAMB2	3913	genome.wustl.edu	37	3	49162772	49162772	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49162772G>A	ENST00000418109.1	-	20	2798	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	LAMB2_ENST00000305544.4_Silent_p.V878V|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	878	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCATTGCAGACACATGGCC	0.607																																																	0													107.0	103.0	105.0					3																	49162772		2203	4300	6503	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2634C>T	3.37:g.49162772G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.V878	ENST00000418109.1	37	c.2634	CCDS2789.1	3																																																																																			LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49162772	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	1.000	A
LAMB2	3913	genome.wustl.edu	37	3	49163434	49163434	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49163434G>A	ENST00000418109.1	-	18	2474	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	LAMB2_ENST00000305544.4_Silent_p.I770I|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	770	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACAGGCTGATGAGGAGGG	0.622																																																	0													78.0	75.0	76.0					3																	49163434		2203	4300	6503	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2310C>T	3.37:g.49163434G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I770	ENST00000418109.1	37	c.2310	CCDS2789.1	3																																																																																			LAMB2	-	pfscan_Laminin_IV		0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49163434	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	0.998	A
LAMB2	3913	genome.wustl.edu	37	3	49166205	49166206	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49166205_49166206GG>AT	ENST00000418109.1	-	15	1942_1943	c.1778_1779CC>AT	c.(1777-1779)tCC>tAT	p.S593Y	LAMB2_ENST00000305544.4_Missense_Mutation_p.S593Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	593	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAGTCCAGGATGGAGTTTC	0.614																																																	0																																										SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1778_1779delinsAT	3.37:g.49166205_49166206delinsAT	ENSP00000388325:p.Ser593Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Silent|Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S593|p.S593Y	ENST00000418109.1	37	c.1779|c.1778	CCDS2789.1	3																																																																																			LAMB2	-	pfscan_Laminin_IV		0.614	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49166205|49166206	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent|missense	SNP	0.418|0.513	A|T
LAMC2	3918	genome.wustl.edu	37	1	183206490	183206490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:183206490G>T	ENST00000264144.4	+	18	2670	c.2605G>T	c.(2605-2607)Gaa>Taa	p.E869*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.E869*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	869	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTCATAGGTGGAAGAAGCAAA	0.463																																																	0													74.0	73.0	74.0					1																	183206490		2203	4300	6503	SO:0001587	stop_gained	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2605G>T	1.37:g.183206490G>T	ENSP00000264144:p.Glu869*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.E869*	ENST00000264144.4	37	c.2605	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.149701	0.98096	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.36	5.36	0.76844	.	0.141693	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	16.1604	0.81700	0.0:0.0:1.0:0.0	.	.	.	.	X	869	.	ENSP00000264144:E869X	E	+	1	0	LAMC2	181473113	0.340000	0.24792	0.493000	0.27502	0.284000	0.27059	0.364000	0.20325	2.665000	0.90641	0.561000	0.74099	GAA	LAMC2	-	NULL		0.463	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183206490	+1	no_errors	ENST00000264144	ensembl	human	known	70_37	nonsense	SNP	0.617	T
LAMC2	3918	genome.wustl.edu	37	1	183206632	183206633	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:183206632_183206633GG>AA	ENST00000264144.4	+	18	2812_2813	c.2747_2748GG>AA	c.(2746-2748)gGG>gAA	p.G916E	LAMC2_ENST00000493293.1_Missense_Mutation_p.G916E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	916	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAAAAAGTGGGAGAGAGGTAT	0.386																																																	0																																										SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	Exception_encountered	1.37:g.183206632_183206633delinsAA	ENSP00000264144:p.Gly916Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation|Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.G916E|p.G916	ENST00000264144.4	37	c.2747|c.2748	CCDS1352.1	1																																																																																			LAMC2	-	NULL		0.386	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183206632|183206633	+1	no_errors	ENST00000264144	ensembl	human	known	70_37	missense|silent	SNP	0.036|0.332	A
LAMB3	3914	genome.wustl.edu	37	1	209799070	209799070	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:209799070C>T	ENST00000356082.4	-	14	2033	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	LAMB3_ENST00000367030.3_Silent_p.Q633Q|LAMB3_ENST00000391911.1_Silent_p.Q633Q|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	633	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGCTCGGATCTGCTCAATCT	0.617																																																	0													78.0	74.0	76.0					1																	209799070		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1899G>A	1.37:g.209799070C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q633	ENST00000356082.4	37	c.1899	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.617	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209799070	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.855	T
LDHD	197257	genome.wustl.edu	37	16	75148453	75148453	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:75148453C>T	ENST00000450168.2	-	5	650	c.600G>A	c.(598-600)ctG>ctA	p.L200L	LDHD_ENST00000300051.4_Silent_p.L200L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCGCCGTGTGCAGCAGCCGCC	0.756																																																	0													10.0	12.0	11.0					16																	75148453		1925	3702	5627	SO:0001819	synonymous_variant	197257			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.600G>A	16.37:g.75148453C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L200	ENST00000450168.2	37	c.600	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.756	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	C	NM_153486		75148453	-1	no_errors	ENST00000300051	ensembl	human	known	70_37	silent	SNP	0.942	T
LEFTY2	7044	genome.wustl.edu	37	1	226125178	226125178	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:226125178G>A	ENST00000366820.5	-	4	1412	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Missense_Mutation_p.S321L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	355					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CGCCCCATCCGAGGCACAGCT	0.607																																					Colon(172;116 2643 9098 43333)												0													58.0	59.0	58.0					1																	226125178		2203	4300	6503	SO:0001583	missense	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.1064C>T	1.37:g.226125178G>A	ENSP00000355785:p.Ser355Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.S355L	ENST00000366820.5	37	c.1064	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.779573	0.49891	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.66099	-0.0;-0.19	5.21	2.17	0.27698	.	0.474097	0.25154	N	0.032721	T	0.39655	0.1086	L	0.29908	0.895	0.27322	N	0.957022	P;P	0.45428	0.858;0.772	B;B	0.35114	0.196;0.196	T	0.25047	-1.0143	10	0.29301	T	0.29	.	6.4289	0.21786	0.1449:0.3046:0.5505:0.0	.	321;355	E9PDM4;O00292	.;LFTY2_HUMAN	L	321;355	ENSP00000388009:S321L;ENSP00000355785:S355L	ENSP00000355785:S355L	S	-	2	0	LEFTY2	224191801	0.264000	0.24093	0.804000	0.32291	0.938000	0.57974	1.239000	0.32719	0.643000	0.30638	0.561000	0.74099	TCG	LEFTY2	-	pirsf_LRDF		0.607	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	G	NM_003240		226125178	-1	no_errors	ENST00000366820	ensembl	human	known	70_37	missense	SNP	0.994	A
LIMD1	8994	genome.wustl.edu	37	3	45637450	45637450	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:45637450C>T	ENST00000273317.4	+	1	1100	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	LIMD1_ENST00000440097.1_Missense_Mutation_p.S360L|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	360					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CTGGACGGTTCACAGCAGGGT	0.617																																																	0													67.0	65.0	66.0					3																	45637450		2203	4300	6503	SO:0001583	missense	8994			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1079C>T	3.37:g.45637450C>T	ENSP00000273317:p.Ser360Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S360L	ENST00000273317.4	37	c.1079	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	C	3.434	-0.115551	0.06881	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57107	0.42;0.61	4.51	1.02	0.19986	.	6.654290	0.00424	N	0.000073	T	0.24470	0.0593	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.19590	T	0.45	.	0.9679	0.01410	0.4166:0.2879:0.1437:0.1518	.	360	Q9UGP4	LIMD1_HUMAN	L	360	ENSP00000394537:S360L;ENSP00000273317:S360L	ENSP00000273317:S360L	S	+	2	0	LIMD1	45612454	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.783000	0.26802	0.280000	0.22209	0.655000	0.94253	TCA	LIMD1	-	NULL		0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	C	NM_014240		45637450	+1	no_errors	ENST00000273317	ensembl	human	known	70_37	missense	SNP	0.001	T
LEKR1	389170	genome.wustl.edu	37	3	156697069	156697069	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs535630843		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:156697069G>A	ENST00000470811.1	+	0	946				LEKR1_ENST00000356539.4_Intron|LEKR1_ENST00000489350.1_3'UTR			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTTATGTAAGATGGAGAATA	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0																0													196.0	175.0	181.0					3																	156697069		692	1591	2283			389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-390G>A	3.37:g.156697069G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000470811.1	37	NULL		3																																																																																			LEKR1	-	-		0.348	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	Uniprot_genename	protein_coding	OTTHUMT00000351625.3	G	NM_001004316		156697069	+1	no_errors	ENST00000489350	ensembl	human	known	70_37	rna	SNP	0.988	A
LIME1	54923	genome.wustl.edu	37	20	62370085	62370085	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:62370085C>G	ENST00000309546.3	+	6	807	c.720C>G	c.(718-720)ctC>ctG	p.L240L	RP4-583P15.14_ENST00000476221.1_3'UTR|RP4-583P15.15_ENST00000490623.2_3'UTR|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.14_ENST00000467211.1_Intron|SLC2A4RG_ENST00000266077.2_5'Flank	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	240					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCTCCCGCTCAGGGCCCTGG	0.687																																																	0													27.0	32.0	30.0					20																	62370085		2197	4296	6493	SO:0001819	synonymous_variant	54923			AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.720C>G	20.37:g.62370085C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Silent	SNP	NULL	p.L240	ENST00000309546.3	37	c.720	CCDS13536.1	20																																																																																			LIME1	-	NULL		0.687	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LIME1	HGNC	protein_coding	OTTHUMT00000080225.1	C	NM_017806		62370085	+1	no_errors	ENST00000309546	ensembl	human	known	70_37	silent	SNP	0.003	G
LINC00514	283875	genome.wustl.edu	37	16	3040221	3040221	+	lincRNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:3040221C>T	ENST00000571152.1	+	0	27									long intergenic non-protein coding RNA 514																		GAGAGCCTCTCAGGTTTGCTG	0.622																																																	0																																												283875			AK098017		16p13.3	2012-10-12				ENSG00000262152		"""Long non-coding RNAs"""	27549	non-coding RNA	RNA, long non-coding							Standard	NR_033861		Approved		uc002css.1				16.37:g.3040221C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000571152.1	37	NULL		16																																																																																			LINC00514	-	-		0.622	LINC00514-002	KNOWN	basic	lincRNA	LINC00514	HGNC	lincRNA	OTTHUMT00000436956.1	C	NR_033861		3040221	+1	no_errors	ENST00000571152	ensembl	human	known	70_37	rna	SNP	0.001	T
LINS	55180	genome.wustl.edu	37	15	101121020	101121020	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:101121020C>T	ENST00000314742.8	-	2	250	c.28G>A	c.(28-30)Gag>Aag	p.E10K	LINS_ENST00000561308.1_Missense_Mutation_p.E10K|LINS_ENST00000560133.1_Missense_Mutation_p.E10K|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	10										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGTATAACTCTTCTAAAACT	0.348																																																	0													31.0	31.0	31.0					15																	101121020		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.28G>A	15.37:g.101121020C>T	ENSP00000318423:p.Glu10Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.E10K	ENST00000314742.8	37	c.28	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057208	0.36277	.	.	ENSG00000140471	ENST00000314742	T	0.20881	2.04	5.63	2.73	0.32206	.	0.539988	0.18146	N	0.150250	T	0.11580	0.0282	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.11329	0.006;0.006;0.006	T	0.24333	-1.0163	10	0.62326	D	0.03	-0.0339	11.2129	0.48808	0.0:0.2606:0.6044:0.135	.	10;10;10	B4DQT3;Q8NG48-2;Q8NG48	.;.;LINES_HUMAN	K	10	ENSP00000318423:E10K	ENSP00000318423:E10K	E	-	1	0	LINS	98938543	0.085000	0.21516	0.123000	0.21794	0.548000	0.35241	0.911000	0.28584	0.310000	0.22990	-0.738000	0.03535	GAG	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101121020	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.759	T
LIPI	149998	genome.wustl.edu	37	21	15517001	15517001	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:15517001G>A	ENST00000536861.1	-	9	1237	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.S434F|AP001347.6_ENST00000428809.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	413					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCATGTGGAACACTGCAG	0.308																																																	0													80.0	84.0	83.0					21																	15517001		2203	4296	6499	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1238C>T	21.37:g.15517001G>A	ENSP00000440381:p.Ser413Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.S434F	ENST00000536861.1	37	c.1301		21	.	.	.	.	.	.	.	.	.	.	G	3.118	-0.181236	0.06380	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.88354	-2.37;-2.35	5.34	3.52	0.40303	.	1.059590	0.07327	N	0.878535	T	0.79118	0.4392	N	0.11560	0.145	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.65442	-0.6167	10	0.36615	T	0.2	.	8.341	0.32243	0.1829:0.0:0.8171:0.0	.	434	Q6XZB0-2	.	F	434;413	ENSP00000343331:S434F;ENSP00000440381:S413F	ENSP00000343331:S434F	S	-	2	0	LIPI	14438872	0.000000	0.05858	0.008000	0.14137	0.276000	0.26787	0.499000	0.22546	0.737000	0.32582	0.650000	0.86243	TCC	LIPI	-	pirsf_Lipoprotein_lipase_LIPH		0.308	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		G	NM_198996		15517001	-1	no_errors	ENST00000344577	ensembl	human	known	70_37	missense	SNP	0.009	A
LIPM	340654	genome.wustl.edu	37	10	90562694	90562694	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:90562694G>A	ENST00000404743.4	+	1	208	c.41G>A	c.(40-42)aGa>aAa	p.R14K	LIPM_ENST00000539337.1_5'Flank	NM_001128215.1	NP_001121687.1	Q5VYY2	LIPM_HUMAN	lipase, family member M	14					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						GTCTCACACAGAATGGAAATG	0.398																																																	0													179.0	158.0	164.0					10																	90562694		692	1591	2283	SO:0001583	missense	340654				CCDS44457.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000173239	ENSG00000173239			23455	protein-coding gene	gene with protein product		613923	"""lipase-like, ab-hydrolase domain containing 3"""	LIPL3			Standard	NM_001128215		Approved	bA304I5.1	uc009xtm.1	Q5VYY2	OTTHUMG00000018698	ENST00000404743.4:c.41G>A	10.37:g.90562694G>A	ENSP00000383901:p.Arg14Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVS3|B2RXK7|B5MCR3	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.R14K	ENST00000404743.4	37	c.41	CCDS44457.1	10	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467190	0.43839	.	.	ENSG00000173239	ENST00000404743	T	0.70869	-0.52	4.87	4.87	0.63330	.	.	.	.	.	T	0.51805	0.1696	N	0.08118	0	0.80722	D	1	P	0.40000	0.698	B	0.36959	0.237	T	0.60388	-0.7273	9	0.51188	T	0.08	-14.3833	15.2011	0.73139	0.0:0.0:1.0:0.0	.	14	Q5VYY2	LIPM_HUMAN	K	14	ENSP00000383901:R14K	ENSP00000383901:R14K	R	+	2	0	LIPM	90552674	0.994000	0.37717	0.971000	0.41717	0.193000	0.23685	5.055000	0.64282	2.678000	0.91216	0.655000	0.94253	AGA	LIPM	-	NULL		0.398	LIPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPM	HGNC	protein_coding	OTTHUMT00000049261.3	G	XM_291663		90562694	+1	no_errors	ENST00000404743	ensembl	human	known	70_37	missense	SNP	0.976	A
LMLN	89782	genome.wustl.edu	37	3	197701344	197701344	+	Splice_Site	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197701344G>C	ENST00000330198.4	+	2	338	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	LMLN_ENST00000482695.1_Splice_Site_p.E54Q|LMLN_ENST00000420910.2_Splice_Site_p.E106Q|LMLN_ENST00000332636.5_Splice_Site_p.E54Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGTGTTGAAGAGTAAGTACA	0.299																																																	0													126.0	126.0	126.0					3																	197701344		2203	4298	6501	SO:0001630	splice_region_variant	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.317+1G>C	3.37:g.197701344G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.E106Q	ENST00000330198.4	37	c.316	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482818	0.26598	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.67	3.79	0.43588	.	0.259681	0.31233	N	0.008017	T	0.23572	0.0570	N	0.14661	0.345	0.25243	N	0.989731	B;B;B;B	0.18610	0.007;0.021;0.029;0.005	B;B;B;B	0.22152	0.038;0.017;0.02;0.022	T	0.17684	-1.0361	10	0.14252	T	0.57	-14.1482	10.1454	0.42760	0.0:0.0:0.8012:0.1988	.	106;54;106;54	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	Q	54;106;34;106;54	ENSP00000418324:E54Q;ENSP00000328829:E106Q;ENSP00000390872:E34Q;ENSP00000410926:E106Q;ENSP00000328611:E54Q	ENSP00000328829:E106Q	E	+	1	0	LMLN	199185741	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.618000	0.61211	1.183000	0.42943	0.585000	0.79938	GAG	LMLN	-	pfam_Peptidase_M8		0.299	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	G	NM_033029	Missense_Mutation	197701344	+1	no_errors	ENST00000330198	ensembl	human	known	70_37	missense	SNP	0.997	C
LMO1	4004	genome.wustl.edu	37	11	8251899	8251899	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:8251899C>T	ENST00000335790.3	-	2	673	c.178G>A	c.(178-180)Gag>Aag	p.E60K	LMO1_ENST00000534484.1_Missense_Mutation_p.E49K|LMO1_ENST00000428101.2_Missense_Mutation_p.E59K	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	60	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GAGCCCACCTCGCCCAGGCGG	0.607			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0													121.0	119.0	119.0					11																	8251899		2201	4296	6497	SO:0001583	missense	4004			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.178G>A	11.37:g.8251899C>T	ENSP00000338207:p.Glu60Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E60K	ENST00000335790.3	37	c.178	CCDS44534.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.658394	0.96734	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	D;D;D	0.87412	-2.25;-2.25;-2.25	5.33	5.33	0.75918	Zinc finger, LIM-type (4);	0.350509	0.30714	N	0.009021	D	0.90676	0.7075	M	0.84326	2.69	0.80722	D	1	D;D	0.57899	0.981;0.981	B;P	0.47251	0.382;0.542	D	0.92391	0.5921	10	0.87932	D	0	.	19.0112	0.92874	0.0:1.0:0.0:0.0	.	59;60	E9PSF5;P25800	.;RBTN1_HUMAN	K	60;59;49	ENSP00000338207:E60K;ENSP00000404538:E59K;ENSP00000435456:E49K	ENSP00000338207:E60K	E	-	1	0	LMO1	8208475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.500000	0.84329	0.591000	0.81541	GAG	LMO1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.607	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	C	NM_002315		8251899	-1	no_errors	ENST00000335790	ensembl	human	known	70_37	missense	SNP	1.000	T
LMO7	4008	genome.wustl.edu	37	13	76195958	76195958	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:76195958C>G	ENST00000341547.4	+	1	1389	c.129C>G	c.(127-129)atC>atG	p.I43M	LMO7_ENST00000357063.3_Missense_Mutation_p.I43M|RP11-173B14.5_ENST00000568735.1_RNA|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.I43M|RP11-173B14.5_ENST00000568302.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	43					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGTCTGCATCTGTGTGGGTT	0.408																																																	0													100.0	101.0	101.0					13																	76195958		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.129C>G	13.37:g.76195958C>G	ENSP00000342112:p.Ile43Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.I43M	ENST00000341547.4	37	c.129	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205022	0.58234	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.60171	0.21;0.21;0.21	4.8	-3.81	0.04294	.	3.151060	0.01594	N	0.021727	T	0.45196	0.1330	.	.	.	0.09310	N	1	P	0.35628	0.513	B	0.30316	0.114	T	0.50996	-0.8761	9	0.87932	D	0	.	10.5342	0.44994	0.1401:0.5799:0.28:0.0	.	43	Q8WWI1-3	.	M	43	ENSP00000342112:I43M;ENSP00000349571:I43M;ENSP00000366757:I43M	ENSP00000342112:I43M	I	+	3	3	LMO7	75093959	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	0.325000	0.19628	-0.565000	0.06061	0.655000	0.94253	ATC	LMO7	-	superfamily_CH-domain		0.408	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	C	NM_005358		76195958	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.000	G
LMTK2	22853	genome.wustl.edu	37	7	97820151	97820151	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:97820151C>T	ENST00000297293.5	+	10	1403	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACACAAAACTCCCGAAGCCCC	0.493																																																	0													168.0	184.0	178.0					7																	97820151		2203	4300	6503	SO:0001819	synonymous_variant	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1110C>T	7.37:g.97820151C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D272|Q75MG7|Q9UPS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L370	ENST00000297293.5	37	c.1110	CCDS5654.1	7																																																																																			LMTK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	C	NM_014916		97820151	+1	no_errors	ENST00000297293	ensembl	human	known	70_37	silent	SNP	0.998	T
LOC728554	728554	genome.wustl.edu	37	5	177310846	177310846	+	RNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:177310846G>A	ENST00000506672.1	+	0	1143					NR_003615.2																						AGGTTGTAGGGAGAGGAGGCC	0.488																																																	0																																												100128340																															5.37:g.177310846G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000506672.1	37	NULL		5																																																																																			RP11-423H2.1	-	-		0.488	RP11-423H2.1-002	KNOWN	basic	processed_transcript	LOC100128340	Clone_based_vega_gene	pseudogene	OTTHUMT00000373226.1	G			177310846	+1	no_errors	ENST00000506672	ensembl	human	known	70_37	rna	SNP	0.672	A
CCDC64B	146439	genome.wustl.edu	37	16	3086057	3086057	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:3086057C>T	ENST00000572449.1	-	2	33				CCDC64B_ENST00000389347.4_5'Flank|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B											breast(1)|endometrium(2)|large_intestine(1)	4						CTCTCGCCCTCATTCTCCTGC	0.617																																																	0																																										SO:0001627	intron_variant	100128770			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.30-530G>A	16.37:g.3086057C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658L9	RNA	SNP	-	NULL	ENST00000572449.1	37	NULL	CCDS45393.1	16																																																																																			RP11-473M20.5	-	-		0.617	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128770	Clone_based_vega_gene	protein_coding	OTTHUMT00000436991.1	C			3086057	+1	no_errors	ENST00000382225	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC01310	100128946	genome.wustl.edu	37	22	49290785	49290785	+	lincRNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:49290785G>A	ENST00000380981.2	+	0	667					NR_038944.1																						TGGGGACATGGACATGAAGGC	0.637																																																	0																																												100128946																															22.37:g.49290785G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000380981.2	37	NULL		22																																																																																			WI2-81516E3.1	-	-		0.637	WI2-81516E3.1-001	KNOWN	basic	lincRNA	LOC100128946	Clone_based_vega_gene	lincRNA	OTTHUMT00000317499.1	G			49290785	+1	no_errors	ENST00000380981	ensembl	human	known	70_37	rna	SNP	0.008	A
DEFB130	245940	genome.wustl.edu	37	8	11929234	11929234	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:11929234G>A	ENST00000437818.1	-	1	22	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001195257.1	NP_001182186.1	Q30KQ2	DB130_HUMAN	defensin, beta 130	8					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)								STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GAGGAGAACAGAAATAAGGGA	0.453																																																	0													1.0	1.0	1.0					8																	11929234		52	220	272	SO:0001583	missense	100133267			DQ012022	CCDS43714.1	8p23.1	2011-03-30			ENSG00000232948	ENSG00000232948		"""Defensins, beta"""	18107	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037804		Approved	DEFB-30	uc003wuz.1	Q30KQ2	OTTHUMG00000158742	ENST00000437818.1:c.23C>T	8.37:g.11929234G>A	ENSP00000392568:p.Ser8Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Defensin_beta-typ	p.S8F	ENST00000437818.1	37	c.23	CCDS56524.1	8	.	.	.	.	.	.	.	.	.	.	g	11.41	1.629789	0.28978	.	.	ENSG00000233050	ENST00000437818	.	.	.	1.52	0.557	0.17260	.	.	.	.	.	T	0.14787	0.0357	.	.	.	0.09310	N	0.999994	P	0.44734	0.842	B	0.29176	0.099	T	0.13176	-1.0519	7	0.42905	T	0.14	-0.5435	5.5791	0.17241	0.0:0.3507:0.6493:0.0	.	8	Q30KQ2	DB130_HUMAN	F	8	.	ENSP00000392568:S8F	S	-	2	0	RP11-1236K1.1	11966643	0.673000	0.27539	0.419000	0.26584	0.923000	0.55619	2.696000	0.47052	0.189000	0.20188	0.298000	0.19748	TCT	DEFB130	-	NULL		0.453	DEFB130-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	LOC100133267	Uniprot_genename	protein_coding	OTTHUMT00000351890.1	G	NM_001037804		11929234	-1	no_errors	ENST00000437818	ensembl	human	putative	70_37	missense	SNP	0.559	A
LOC100287792	100287792	genome.wustl.edu	37	20	36306407	36306407	+	lincRNA	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:36306407G>T	ENST00000373508.1	+	0	225					NR_040021.1																						TATCTGCAGAGAAGAAAGGAG	0.458																																																	0																																												100287792																															20.37:g.36306407G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000373508.1	37	NULL		20																																																																																			RP4-640H8.2	-	-		0.458	RP4-640H8.2-001	KNOWN	basic	lincRNA	LOC100287792	Clone_based_vega_gene	lincRNA	OTTHUMT00000276667.1	G			36306407	+1	no_errors	ENST00000373508	ensembl	human	known	70_37	rna	SNP	0.003	T
NPIPA5	100288332	genome.wustl.edu	37	16	15474827	15474827	+	5'Flank	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:15474827C>T	ENST00000360151.4	-	0	0				NPIPA5_ENST00000543801.1_5'Flank|NPIPA5_ENST00000534094.1_Silent_p.Q26Q	NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5																		ACTTTACGTGCTGCTGCAGCT	0.577																																																	0																																										SO:0001631	upstream_gene_variant	100288332				CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305		16.37:g.15474827C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P618	Silent	SNP	pfam_NPIP	p.Q26	ENST00000360151.4	37	c.78	CCDS59264.1	16																																																																																			PKD1P1	-	NULL		0.577	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	LOC100288332	Uniprot_genename	protein_coding	OTTHUMT00000389069.1	C			15474827	-1	no_errors	ENST00000534094	ensembl	human	novel	70_37	silent	SNP	0.967	T
PITRM1	10531	genome.wustl.edu	37	10	3190278	3190278	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:3190278G>C	ENST00000224949.4	-	18	2027				PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Intron|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AAACACAGAAGAAAGGAATTA	0.498																																																	0													95.0	95.0	95.0					10																	3190278		1971	4162	6133	SO:0001627	intron_variant	100507034			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1993-23C>G	10.37:g.3190278G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	SNP	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			RP11-298E9.3	-	-		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100507034	Clone_based_vega_gene	protein_coding	OTTHUMT00000046469.2	G			3190278	+1	no_errors	ENST00000430356	ensembl	human	known	70_37	rna	SNP	0.001	C
LOC400499	400499	genome.wustl.edu	37	16	11542909	11542909	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:11542909C>G	ENST00000344649.3	-	18	2619	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q																								CAGGCTGACTCGAGTTCGCTC	0.582																																																	0																																										SO:0001583	missense	101060360																														ENST00000344649.3:c.1087G>C	16.37:g.11542909C>G	ENSP00000343456:p.Glu363Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E363Q	ENST00000344649.3	37	c.1087		16	.	.	.	.	.	.	.	.	.	.	.	12.74	2.030028	0.35797	.	.	ENSG00000188897	ENST00000344649	T	0.10099	2.91	3.32	3.32	0.38043	.	0.667186	0.14197	N	0.334968	T	0.18087	0.0434	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.06807	-1.0806	8	0.31617	T	0.26	-15.3625	12.4723	0.55794	0.0:1.0:0.0:0.0	.	.	.	.	Q	363	ENSP00000343456:E363Q	ENSP00000343456:E363Q	E	-	1	0	AC099489.1	11450410	0.056000	0.20664	0.019000	0.16419	0.010000	0.07245	0.890000	0.28295	1.553000	0.49476	0.561000	0.74099	GAG	CTD-3088G3.8	-	NULL		0.582	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101060360	Clone_based_vega_gene	protein_coding		C			11542909	-1	no_errors	ENST00000344649	ensembl	human	known	70_37	missense	SNP	0.050	G
LOC220729	220729	genome.wustl.edu	37	3	197349125	197349125	+	RNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:197349125G>A	ENST00000418868.1	-	0	452					NR_003266.2																						CAGCCAGTCGGAGCCCTTCAC	0.602																																																	0																																												220729																															3.37:g.197349125G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000418868.1	37	NULL		3																																																																																			AC024560.3	-	-		0.602	AC024560.3-001	KNOWN	basic	processed_transcript	LOC220729	Clone_based_vega_gene	pseudogene	OTTHUMT00000340283.1	G			197349125	-1	no_errors	ENST00000414207	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC100631378	100631378	genome.wustl.edu	37	19	38314525	38314525	+	lincRNA	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:38314525G>C	ENST00000592640.1	-	0	1552				CTD-2554C21.2_ENST00000590433.1_lincRNA	NR_040015.1																						TGTAAGGGAAGAAAAAGGAAG	0.413																																																	0																																												644554																															19.37:g.38314525G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000592640.1	37	NULL		19																																																																																			CTD-2554C21.2	-	-		0.413	AC016582.2-001	KNOWN	basic	lincRNA	LOC644554	Clone_based_vega_gene	lincRNA	OTTHUMT00000109619.2	G			38314525	+1	no_errors	ENST00000587248	ensembl	human	known	70_37	rna	SNP	0.053	C
AC011718.2	0	genome.wustl.edu	37	22	20640653	20640653	+	lincRNA	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:20640653C>T	ENST00000577456.1	-	0	907																											TATATGGCATCCTCATTAGCG	0.522																																																	0																																												729461																															22.37:g.20640653C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-		0.522	AC011718.2-004	KNOWN	basic	lincRNA	LOC729461	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	C			20640653	-1	no_errors	ENST00000577456	ensembl	human	known	70_37	rna	SNP	0.959	T
LPO	4025	genome.wustl.edu	37	17	56343535	56343535	+	Missense_Mutation	SNP	G	G	A	rs8178401		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:56343535G>A	ENST00000262290.4	+	11	1857	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LPO_ENST00000582328.1_Missense_Mutation_p.R431Q|LPO_ENST00000421678.2_Missense_Mutation_p.R431Q|LPO_ENST00000543544.1_Missense_Mutation_p.R455Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401). {ECO:0000269|Ref.3}.		defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTCTGGTGCGGGGCCTGCTG	0.532																																																	0													56.0	49.0	51.0					17																	56343535		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1541G>A	17.37:g.56343535G>A	ENSP00000262290:p.Arg514Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R514Q	ENST00000262290.4	37	c.1541	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.312298	0.95655	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70399	-0.48;-0.48;-0.48	6.06	5.1	0.69264	.	0.049849	0.85682	N	0.000000	D	0.85660	0.5748	M	0.86420	2.815	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88293	0.2944	10	0.87932	D	0	-36.0285	14.3163	0.66452	0.0704:0.0:0.9296:0.0	rs8178401	431;514	E7EMJ3;P22079	.;PERL_HUMAN	Q	514;431;455;259	ENSP00000262290:R514Q;ENSP00000400245:R431Q;ENSP00000445344:R455Q	ENSP00000262290:R514Q	R	+	2	0	LPO	53698534	0.999000	0.42202	0.950000	0.38849	0.995000	0.86356	9.406000	0.97321	1.572000	0.49736	0.655000	0.94253	CGG	LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	G			56343535	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	missense	SNP	0.789	A
LRIT2	340745	genome.wustl.edu	37	10	85984450	85984450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:85984450G>T	ENST00000372113.4	-	2	536	c.531C>A	c.(529-531)taC>taA	p.Y177*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.Y177*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	177						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGCATTTCTGGTAGGCTGGCC	0.557																																																	0													61.0	57.0	58.0					10																	85984450		2203	4300	6503	SO:0001587	stop_gained	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.531C>A	10.37:g.85984450G>T	ENSP00000361185:p.Tyr177*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZME6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y177*	ENST00000372113.4	37	c.531	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509678	0.44660	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.82	0.85	0.18980	.	0.057079	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1784	0.37127	0.377:0.0:0.623:0.0	.	.	.	.	X	177	.	ENSP00000361185:Y177X	Y	-	3	2	LRIT2	85974430	1.000000	0.71417	0.726000	0.30738	0.115000	0.19883	1.081000	0.30791	0.106000	0.17784	-0.136000	0.14681	TAC	LRIT2	-	NULL		0.557	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984450	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LRP2	4036	genome.wustl.edu	37	2	170127601	170127601	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:170127601G>A	ENST00000263816.3	-	16	2418	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	711					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGAAAAAATGAGGAAATTCT	0.448																																																	0													64.0	53.0	57.0					2																	170127601		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2133C>T	2.37:g.170127601G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L711	ENST00000263816.3	37	c.2133	CCDS2232.1	2																																																																																			LRP2	-	NULL		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170127601	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	0.997	A
LRR1	122769	genome.wustl.edu	37	14	50074299	50074299	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:50074299C>G	ENST00000298288.6	+	3	788	c.464C>G	c.(463-465)tCc>tGc	p.S155C	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	155					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTCCATATTCCTTGGAACAT	0.363																																																	0													65.0	66.0	66.0					14																	50074299		2203	4300	6503	SO:0001583	missense	122769			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.464C>G	14.37:g.50074299C>G	ENSP00000298288:p.Ser155Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S155C	ENST00000298288.6	37	c.464	CCDS9686.1	14	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533484	0.64972	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.20332	2.08	5.98	3.14	0.36123	.	0.098051	0.64402	D	0.000001	T	0.32645	0.0836	M	0.79805	2.47	0.80722	D	1	D;D	0.61697	0.975;0.99	P;P	0.48901	0.594;0.594	T	0.13764	-1.0497	10	0.87932	D	0	-3.8991	9.6158	0.39690	0.1206:0.7687:0.0:0.1106	.	177;155	A8MSW2;Q96L50	.;LLR1_HUMAN	C	155;177	ENSP00000298288:S155C	ENSP00000298288:S155C	S	+	2	0	LRR1	49144049	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	4.272000	0.58908	0.405000	0.25532	0.650000	0.86243	TCC	LRR1	-	NULL		0.363	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	C	NM_203467		50074299	+1	no_errors	ENST00000298288	ensembl	human	known	70_37	missense	SNP	0.999	G
LRRC37A6P	387646	genome.wustl.edu	37	10	27539146	27539146	+	lincRNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:27539146G>A	ENST00000574842.1	+	0	415				LRRC37A6P_ENST00000284414.4_RNA																							ATGGTGAGCTGCATGTCTGGA	0.512																																																	0													68.0	60.0	62.0					10																	27539146		692	1591	2283			387646																															10.37:g.27539146G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.512	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	G			27539146	-1	no_errors	ENST00000284414	ensembl	human	known	70_37	rna	SNP	0.001	A
LRRC48	83450	genome.wustl.edu	37	17	17896144	17896144	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:17896144G>A	ENST00000399187.1	+	6	728	c.510G>A	c.(508-510)gaG>gaA	p.E170E	LRRC48_ENST00000313838.8_Silent_p.E170E|LRRC48_ENST00000584166.1_Silent_p.E170E|LRRC48_ENST00000411504.2_Silent_p.E170E|LRRC48_ENST00000399182.1_Silent_p.E170E	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	170	LRRCT.					cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTATCTCTGAGGCAGAGGATT	0.532																																																	0													85.0	84.0	85.0					17																	17896144		2083	4210	6293	SO:0001819	synonymous_variant	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.510G>A	17.37:g.17896144G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.E170	ENST00000399187.1	37	c.510	CCDS45622.1	17																																																																																			LRRC48	-	NULL		0.532	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17896144	+1	no_errors	ENST00000313838	ensembl	human	known	70_37	silent	SNP	0.246	A
LRRC48	83450	genome.wustl.edu	37	17	17896148	17896148	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:17896148G>A	ENST00000399187.1	+	6	732	c.514G>A	c.(514-516)Gag>Aag	p.E172K	LRRC48_ENST00000313838.8_Missense_Mutation_p.E172K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E172K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E172K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E172K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	172	LRRCT.					cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTCTGAGGCAGAGGATTACAA	0.532																																																	0													87.0	87.0	87.0					17																	17896148		2087	4212	6299	SO:0001583	missense	83450			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.514G>A	17.37:g.17896148G>A	ENSP00000382140:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.E172K	ENST00000399187.1	37	c.514	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701520	0.68501	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.02	5.02	0.67125	.	0.048798	0.85682	D	0.000000	T	0.41858	0.1177	L	0.58669	1.825	0.80722	D	1	B;B	0.24132	0.059;0.098	B;B	0.20767	0.023;0.031	T	0.26780	-1.0093	10	0.32370	T	0.25	-30.4082	17.1386	0.86747	0.0:0.0:1.0:0.0	.	172;172	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	172	ENSP00000326870:E172K;ENSP00000394020:E172K;ENSP00000382140:E172K;ENSP00000382136:E172K	ENSP00000326870:E172K	E	+	1	0	LRRC48	17836873	1.000000	0.71417	0.926000	0.36857	0.901000	0.52897	6.532000	0.73825	2.331000	0.79229	0.563000	0.77884	GAG	LRRC48	-	NULL		0.532	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	G	NM_031294		17896148	+1	no_errors	ENST00000313838	ensembl	human	known	70_37	missense	SNP	0.997	A
LRRC8E	80131	genome.wustl.edu	37	19	7964444	7964444	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:7964444C>T	ENST00000306708.6	+	3	1138	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	346					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCTTCCGTTCCGTGCGGGAG	0.547																																																	0													82.0	67.0	72.0					19																	7964444		2203	4300	6503	SO:0001583	missense	80131				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1037C>T	19.37:g.7964444C>T	ENSP00000306524:p.Ser346Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S346F	ENST00000306708.6	37	c.1037	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	7.656	0.683870	0.14907	.	.	ENSG00000171017	ENST00000306708	T	0.28666	1.6	4.89	4.89	0.63831	.	0.126939	0.56097	D	0.000040	T	0.23532	0.0569	L	0.29908	0.895	0.09310	N	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.08126	-1.0737	10	0.22109	T	0.4	.	15.601	0.76626	0.0:1.0:0.0:0.0	.	346	Q6NSJ5	LRC8E_HUMAN	F	346	ENSP00000306524:S346F	ENSP00000306524:S346F	S	+	2	0	LRRC8E	7870444	0.464000	0.25807	0.145000	0.22337	0.992000	0.81027	2.133000	0.42093	2.546000	0.85860	0.555000	0.69702	TCC	LRRC8E	-	NULL		0.547	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	C	NM_025061		7964444	+1	no_errors	ENST00000306708	ensembl	human	known	70_37	missense	SNP	0.070	T
LRRC4B	94030	genome.wustl.edu	37	19	51021572	51021572	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:51021572G>A	ENST00000599957.1	-	3	1595	c.1398C>T	c.(1396-1398)agC>agT	p.S466S	LRRC4B_ENST00000389201.3_Silent_p.S466S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	466	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		cgcccccgccgctgccggtgc	0.716																																																	0													12.0	16.0	15.0					19																	51021572		1829	3984	5813	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1398C>T	19.37:g.51021572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S466	ENST00000599957.1	37	c.1398	CCDS42595.1	19																																																																																			LRRC4B	-	NULL		0.716	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	G	NM_001080457		51021572	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	0.016	A
LRRK2	120892	genome.wustl.edu	37	12	40715870	40715870	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:40715870G>A	ENST00000298910.7	+	36	5262	c.5204G>A	c.(5203-5205)cGa>cAa	p.R1735Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1735					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGTATTGGCGACAAGGCATT	0.368																																																	0													82.0	83.0	83.0					12																	40715870		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5204G>A	12.37:g.40715870G>A	ENSP00000298910:p.Arg1735Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.R1735Q	ENST00000298910.7	37	c.5204	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501953	0.85176	.	.	ENSG00000188906	ENST00000298910	T	0.73469	-0.75	5.35	5.35	0.76521	.	0.053432	0.64402	D	0.000001	T	0.75838	0.3904	N	0.13235	0.315	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.67548	0.934;0.952	T	0.76189	-0.3050	10	0.33141	T	0.24	.	19.0555	0.93062	0.0:0.0:1.0:0.0	.	1735;1735	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	1735	ENSP00000298910:R1735Q	ENSP00000298910:R1735Q	R	+	2	0	LRRK2	39002137	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.147000	0.94646	2.516000	0.84829	0.555000	0.69702	CGA	LRRK2	-	NULL		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40715870	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	A
LTV1	84946	genome.wustl.edu	37	6	144184640	144184640	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:144184640G>A	ENST00000367576.5	+	11	1538	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZC2HC1B_ENST00000539295.1_5'Flank|ZC2HC1B_ENST00000237275.6_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	468						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ACTTGAAGAAGAATGTTGAGG	0.393																																																	0													92.0	90.0	91.0					6																	144184640		2203	4300	6503	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1404G>A	6.37:g.144184640G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JX8	Silent	SNP	pfam_LTV	p.K468	ENST00000367576.5	37	c.1404	CCDS5201.1	6																																																																																			LTV1	-	NULL		0.393	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1	G	NM_032860		144184640	+1	no_errors	ENST00000367576	ensembl	human	known	70_37	silent	SNP	0.732	A
LUC7L	55692	genome.wustl.edu	37	16	242962	242962	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:242962C>G	ENST00000293872.8	-	7	850	c.740G>C	c.(739-741)aGa>aCa	p.R247T	LUC7L_ENST00000337351.4_Missense_Mutation_p.R247T|LUC7L_ENST00000397780.1_Missense_Mutation_p.R194T|LUC7L_ENST00000397783.1_Missense_Mutation_p.R247T	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	247	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCTCCTCTCTCCTCCTCAA	0.517																																																	0													274.0	252.0	259.0					16																	242962		2203	4300	6503	SO:0001583	missense	55692			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.740G>C	16.37:g.242962C>G	ENSP00000293872:p.Arg247Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_LUC7-rel	p.R247T	ENST00000293872.8	37	c.740	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431442	0.43122	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780;ENST00000430864	T;T;T;T	0.59224	0.96;0.96;0.28;0.96	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.77103	2.36	0.58432	D	0.999996	P	0.47841	0.901	B	0.43809	0.432	T	0.68228	-0.5464	10	0.42905	T	0.14	.	17.5027	0.87736	0.0:1.0:0.0:0.0	.	247	Q9NQ29	LUC7L_HUMAN	T	247;247;247;46;194;161	ENSP00000337507:R247T;ENSP00000380885:R247T;ENSP00000413033:R46T;ENSP00000380882:R194T	ENSP00000293872:R247T	R	-	2	0	LUC7L	182963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.669000	0.68081	2.549000	0.85964	0.462000	0.41574	AGA	LUC7L	-	pfam_LUC7-rel		0.517	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	C			242962	-1	no_errors	ENST00000293872	ensembl	human	known	70_37	missense	SNP	1.000	G
LYPD6	130574	genome.wustl.edu	37	2	150320678	150320678	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:150320678G>C	ENST00000334166.4	+	4	474				LYPD6_ENST00000409381.1_Intron	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TTTTGATCAGGAACCATGATC	0.318																																																	0																																										SO:0001627	intron_variant	130574			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.218-4481G>C	2.37:g.150320678G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	NULL	p.G73A	ENST00000334166.4	37	c.218	CCDS2188.1	2																																																																																			LYPD6	-	NULL		0.318	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD6	HGNC	protein_coding	OTTHUMT00000254800.2	G	NM_194317		150320678	+1	no_errors	ENST00000392854	ensembl	human	known	70_37	missense	SNP	0.020	C
MAB21L1	4081	genome.wustl.edu	37	13	36050078	36050078	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:36050078G>A	ENST00000379919.4	-	1	754	c.198C>T	c.(196-198)ctC>ctT	p.L66L	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	66					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATGACCTCGAGGCCCTCGT	0.552																																																	0													101.0	99.0	99.0					13																	36050078		2203	4300	6503	SO:0001819	synonymous_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.198C>T	13.37:g.36050078G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.L66	ENST00000379919.4	37	c.198	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom		0.552	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36050078	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	silent	SNP	0.906	A
MACF1	23499	genome.wustl.edu	37	1	39893651	39893651	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:39893651G>A	ENST00000372915.3	+	61	16578				MACF1_ENST00000567887.1_Missense_Mutation_p.E5536K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3939K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3437K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Missense_Mutation_p.E3437K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3437K|MACF1_ENST00000564288.1_Missense_Mutation_p.E5499K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGACATAGAAAACCATGC	0.398																																																	0													57.0	55.0	55.0					1																	39893651		2203	4300	6503	SO:0001627	intron_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16491+365G>A	1.37:g.39893651G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3437K	ENST00000372915.3	37	c.10309		1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743803	0.69418	.	.	ENSG00000127603	ENST00000545844;ENST00000361689;ENST00000317713;ENST00000289893;ENST00000482035	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.94	5.94	0.96194	.	0.000000	0.56097	D	0.000030	T	0.50956	0.1646	L	0.59436	1.845	0.80722	D	1	P;P	0.48911	0.917;0.605	P;P	0.48598	0.583;0.503	T	0.39251	-0.9623	10	0.23891	T	0.37	.	13.5417	0.61679	0.0709:0.0:0.9291:0.0	.	3437;3381	F8W8Q1;Q9UPN3-3	.;.	K	3437;3437;3437;3939;253	ENSP00000439537:E3437K;ENSP00000354573:E3437K;ENSP00000313438:E3437K;ENSP00000289893:E3939K;ENSP00000433104:E253K	ENSP00000289893:E3939K	E	+	1	0	MACF1	39666238	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.986000	0.40677	2.812000	0.96745	0.557000	0.71058	GAA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39893651	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A
MAML2	84441	genome.wustl.edu	37	11	95718733	95718733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:95718733delC	ENST00000524717.1	-	4	3701	c.2417delG	c.(2416-2418)agafs	p.R806fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	806					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													182.0	155.0	163.0					11																	95718733		1833	4083	5916	SO:0001589	frameshift_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2417delG	11.37:g.95718733delC	ENSP00000434552:p.Arg806fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.R806fs	ENST00000524717.1	37	c.2417	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	C			95718733	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
MAOB	4129	genome.wustl.edu	37	X	43654997	43654997	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:43654997C>G	ENST00000378069.4	-	7	904	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	MAOB_ENST00000538942.1_Missense_Mutation_p.E237Q|MAOB_ENST00000536181.1_Missense_Mutation_p.E237Q|MAOB_ENST00000487544.1_5'Flank	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	253					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TCATACATCTCATGGTTTAGG	0.413																																																	0													153.0	129.0	137.0					X																	43654997		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.757G>C	X.37:g.43654997C>G	ENSP00000367309:p.Glu253Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E253Q	ENST00000378069.4	37	c.757	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	6.299	0.423354	0.11928	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.11385	2.78;2.78;2.78	5.29	5.29	0.74685	Amine oxidase (1);	0.157375	0.56097	D	0.000034	T	0.09158	0.0226	N	0.22421	0.69	0.58432	D	0.999995	B;B	0.22276	0.067;0.025	B;B	0.20184	0.028;0.009	T	0.26985	-1.0087	10	0.16896	T	0.51	-22.6696	18.3142	0.90213	0.0:1.0:0.0:0.0	.	237;253	B7Z5H3;P27338	.;AOFB_HUMAN	Q	253;237;237	ENSP00000367309:E253Q;ENSP00000441613:E237Q;ENSP00000442240:E237Q	ENSP00000367309:E253Q	E	-	1	0	MAOB	43539941	0.995000	0.38212	0.953000	0.39169	0.152000	0.21847	2.727000	0.47311	2.351000	0.79841	0.529000	0.55759	GAG	MAOB	-	pfam_Amino_oxidase		0.413	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43654997	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	0.996	G
MAP2K4	6416	genome.wustl.edu	37	17	11984676	11984676	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:11984676G>A	ENST00000353533.5	+	3	285	c.222G>A	c.(220-222)gaG>gaA	p.E74E	MAP2K4_ENST00000581941.1_3'UTR|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Silent_p.E85E	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	74					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTAACAGAGAGAGACTGAGAA	0.353			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											69.0	66.0	67.0					17																	11984676		2203	4300	6503	SO:0001819	synonymous_variant	6416			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.222G>A	17.37:g.11984676G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E85	ENST00000353533.5	37	c.255	CCDS11162.1	17																																																																																			MAP2K4	-	NULL		0.353	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	G			11984676	+1	no_errors	ENST00000415385	ensembl	human	known	70_37	silent	SNP	1.000	A
MAPT	4137	genome.wustl.edu	37	17	44101491	44101491	+	Missense_Mutation	SNP	C	C	T	rs63750991		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:44101491C>T	ENST00000571987.1	+	13	2231	c.2231C>T	c.(2230-2232)aCg>aTg	p.T744M	MAPT_ENST00000576518.1_Missense_Mutation_p.T327M|MAPT_ENST00000574436.1_Missense_Mutation_p.T427M|MAPT_ENST00000262410.5_Missense_Mutation_p.T744M|MAPT_ENST00000334239.8_Missense_Mutation_p.T338M|MAPT_ENST00000347967.5_Missense_Mutation_p.T302M|MAPT_ENST00000351559.5_Missense_Mutation_p.T427M|MAPT_ENST00000431008.3_Missense_Mutation_p.T396M|MAPT_ENST00000535772.1_Missense_Mutation_p.T396M|MAPT_ENST00000420682.2_Missense_Mutation_p.T398M|MAPT_ENST00000344290.5_Missense_Mutation_p.T762M|MAPT_ENST00000415613.2_Missense_Mutation_p.T762M|MAPT_ENST00000446361.3_Missense_Mutation_p.T369M|MAPT_ENST00000340799.5_Missense_Mutation_p.T398M			P10636	TAU_HUMAN	microtubule-associated protein tau	744					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CAGCTCGCCACGCTAGCTGAC	0.597																																																	0			GRCh37	CM043765	MAPT	M	rs63750991						86.0	77.0	80.0					17																	44101491		2203	4300	6503	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2231C>T	17.37:g.44101491C>T	ENSP00000458742:p.Thr744Met	Somatic		WXS	Illumina HiSeq	Phase_IV	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.T762M	ENST00000571987.1	37	c.2285	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489537	0.84962	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	T;T;T;T;T;T;T;T	0.29655	1.96;1.99;1.73;1.7;1.95;1.56;1.7;1.96	4.57	4.57	0.56435	.	0.000000	0.41605	D	0.000858	T	0.45478	0.1344	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.994;0.993;0.993;0.997;0.994	T	0.48725	-0.9010	10	0.87932	D	0	-8.8333	15.9429	0.79771	0.0:1.0:0.0:0.0	rs63750991	762;398;345;338;369;427;744	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	M	762;744;427;398;396;302;345;338;369;398;762;250	ENSP00000340820:T762M;ENSP00000262410:T744M;ENSP00000303214:T427M;ENSP00000340438:T398M;ENSP00000443028:T396M;ENSP00000302706:T302M;ENSP00000413056:T398M;ENSP00000410838:T762M	ENSP00000262410:T744M	T	+	2	0	MAPT	41457336	1.000000	0.71417	0.976000	0.42696	0.920000	0.55202	7.818000	0.86416	2.097000	0.63578	0.655000	0.94253	ACG	MAPT	-	NULL		0.597	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	C	NM_016835		44101491	+1	no_errors	ENST00000344290	ensembl	human	known	70_37	missense	SNP	1.000	T
MARCH5	54708	genome.wustl.edu	37	10	94070946	94070946	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:94070946G>A	ENST00000358935.2	+	2	422	c.90G>A	c.(88-90)gtG>gtA	p.V30V	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	30					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CTGAATGGGTGAGACCATGCA	0.433																																																	0													112.0	103.0	106.0					10																	94070946		2203	4300	6503	SO:0001819	synonymous_variant	54708			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.90G>A	10.37:g.94070946G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V30	ENST00000358935.2	37	c.90	CCDS7420.1	10																																																																																			MARCH5	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.433	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	G	NM_017824		94070946	+1	no_errors	ENST00000358935	ensembl	human	known	70_37	silent	SNP	1.000	A
MARS	4141	genome.wustl.edu	37	12	57884137	57884137	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:57884137G>A	ENST00000262027.5	+	6	772	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	213					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCGCTGAGGGAAGGGCTGTC	0.592																																																	0													76.0	86.0	82.0					12																	57884137		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.638G>A	12.37:g.57884137G>A	ENSP00000262027:p.Gly213Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.G213E	ENST00000262027.5	37	c.638	CCDS8942.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.126|0.126	-1.119679|-1.119679	0.01785|0.01785	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027	.|T	.|0.29142	.|1.58	4.43|4.43	1.46|1.46	0.22682|0.22682	.|.	.|0.707951	.|0.13359	.|N	.|0.393814	T|T	0.19287|0.19287	0.0463|0.0463	L|L	0.29908|0.29908	0.895|0.895	0.42420|0.42420	D|D	0.992633|0.992633	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.06899|0.06899	-1.0801|-1.0801	5|10	.|0.25106	.|T	.|0.35	-5.8934|-5.8934	7.2734|7.2734	0.26271|0.26271	0.398:0.0:0.602:0.0|0.398:0.0:0.602:0.0	.|.	.|86;213	.|B4E0E9;P56192	.|.;SYMC_HUMAN	K|E	85|213	.|ENSP00000262027:G213E	.|ENSP00000262027:G213E	E|G	+|+	1|2	0|0	MARS|MARS	56170404|56170404	0.957000|0.957000	0.32711|0.32711	0.565000|0.565000	0.28409|0.28409	0.008000|0.008000	0.06430|0.06430	0.561000|0.561000	0.23515|0.23515	0.552000|0.552000	0.29026|0.29026	-0.351000|-0.351000	0.07748|0.07748	GAA|GGA	MARS	-	NULL		0.592	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	G	NM_004990		57884137	+1	no_errors	ENST00000262027	ensembl	human	known	70_37	missense	SNP	0.259	A
MAT2A	4144	genome.wustl.edu	37	2	85770819	85770819	+	Missense_Mutation	SNP	A	A	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:85770819A>C	ENST00000306434.3	+	9	1235	c.1112A>C	c.(1111-1113)tAt>tCt	p.Y371S		NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	371					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCCAATTTATCAGAGGACT	0.393																																																	0													33.0	33.0	33.0					2																	85770819		2203	4300	6503	SO:0001583	missense	4144				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.1112A>C	2.37:g.85770819A>C	ENSP00000303147:p.Tyr371Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.Y371S	ENST00000306434.3	37	c.1112	CCDS1977.1	2	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824757	0.50739	.	.	ENSG00000168906	ENST00000306434;ENST00000424323	D	0.98747	-5.11	5.5	5.5	0.81552	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97804	1.0246	10	0.87932	D	0	-8.8807	13.5734	0.61860	1.0:0.0:0.0:0.0	.	371	P31153	METK2_HUMAN	S	371;152	ENSP00000303147:Y371S	ENSP00000303147:Y371S	Y	+	2	0	MAT2A	85624330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.932000	0.92897	2.086000	0.62901	0.383000	0.25322	TAT	MAT2A	-	pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase		0.393	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	A	NM_005911		85770819	+1	no_errors	ENST00000306434	ensembl	human	known	70_37	missense	SNP	1.000	C
MB21D2	151963	genome.wustl.edu	37	3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001587	stop_gained	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>T	3.37:g.192516720G>A	ENSP00000376246:p.Gln311*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VD8	Nonsense_Mutation	SNP	pfam_Mab-21_dom	p.Q311*	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	38	6.850684	0.97885	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000376246:Q311X	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MBD3	53615	genome.wustl.edu	37	19	1581162	1581162	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1581162C>T	ENST00000434436.3	-	5	735	c.606G>A	c.(604-606)aaG>aaA	p.K202K	UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_Silent_p.K170K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Silent_p.K202K|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000590550.2_Silent_p.K146K	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	202					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGGGTTCTTCTCCACGG	0.652																																																	0													97.0	74.0	82.0					19																	1581162		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.606G>A	19.37:g.1581162C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.K202	ENST00000434436.3	37	c.606	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1581162	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T
MBD3L3	653657	genome.wustl.edu	37	19	7056699	7056699	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:7056699G>C	ENST00000333843.4	-	2	295	c.261C>G	c.(259-261)ctC>ctG	p.L87L		NM_001164425.1	NP_001157897.1	A6NE82	MB3L3_HUMAN	methyl-CpG binding domain protein 3-like 3	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					central_nervous_system(1)|lung(5)|stomach(1)	7						GGTAGGCGCAGAGTTGCTGCG	0.592																																																	0													1.0	1.0	1.0					19																	7056699		27	145	172	SO:0001819	synonymous_variant	653657				CCDS45944.1	19p13.2	2014-04-01			ENSG00000182315	ENSG00000182315			37205	protein-coding gene	gene with protein product							Standard	NM_001164425		Approved		uc021uns.1	A6NE82	OTTHUMG00000181976	ENST00000333843.4:c.261C>G	19.37:g.7056699G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L87	ENST00000333843.4	37	c.261	CCDS45944.1	19																																																																																			MBD3L3	-	NULL		0.592	MBD3L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L3	HGNC	protein_coding	OTTHUMT00000458500.1	G	NM_001164425		7056699	-1	no_errors	ENST00000333843	ensembl	human	known	70_37	silent	SNP	0.001	C
MBD3L3	653657	genome.wustl.edu	37	19	7056761	7056761	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:7056761G>A	ENST00000333843.4	-	2	233	c.199C>T	c.(199-201)Cat>Tat	p.H67Y		NM_001164425.1	NP_001157897.1	A6NE82	MB3L3_HUMAN	methyl-CpG binding domain protein 3-like 3	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					central_nervous_system(1)|lung(5)|stomach(1)	7						TTGTCAGGATGAGACCTGATC	0.627																																																	0													1.0	1.0	1.0					19																	7056761		14	54	68	SO:0001583	missense	653657				CCDS45944.1	19p13.2	2014-04-01			ENSG00000182315	ENSG00000182315			37205	protein-coding gene	gene with protein product							Standard	NM_001164425		Approved		uc021uns.1	A6NE82	OTTHUMG00000181976	ENST00000333843.4:c.199C>T	19.37:g.7056761G>A	ENSP00000333183:p.His67Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.H67Y	ENST00000333843.4	37	c.199	CCDS45944.1	19	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535750	0.27475	.	.	ENSG00000182315	ENST00000333843	.	.	.	0.742	0.742	0.18341	.	0.255242	0.25161	N	0.032674	T	0.35740	0.0942	L	0.46670	1.46	0.18873	N	0.999987	.	.	.	.	.	.	T	0.17048	-1.0382	7	0.48119	T	0.1	-4.9623	4.8637	0.13598	0.0:0.0:1.0:0.0	.	.	.	.	Y	67	.	ENSP00000333183:H67Y	H	-	1	0	MBD3L3	7007761	0.286000	0.24305	0.007000	0.13788	0.008000	0.06430	1.152000	0.31663	0.683000	0.31428	0.392000	0.25879	CAT	MBD3L3	-	NULL		0.627	MBD3L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3L3	HGNC	protein_coding	OTTHUMT00000458500.1	G	NM_001164425		7056761	-1	no_errors	ENST00000333843	ensembl	human	known	70_37	missense	SNP	0.008	A
MDM1	56890	genome.wustl.edu	37	12	68719811	68719811	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:68719811C>T	ENST00000303145.7	-	4	585				MDM1_ENST00000545724.1_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000540418.1_Intron	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)						retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAAATGCCTCTTCAGGGTCC	0.483																																																	0																																										SO:0001627	intron_variant	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.499-456G>A	12.37:g.68719811C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	RNA	SNP	-	NULL	ENST00000303145.7	37	NULL	CCDS8983.1	12																																																																																			MDM1	-	-		0.483	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	C	NM_020128		68719811	-1	no_errors	ENST00000540476	ensembl	human	known	70_37	rna	SNP	0.009	T
MDN1	23195	genome.wustl.edu	37	6	90383048	90383048	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:90383048C>T	ENST00000369393.3	-	80	13496	c.13381G>A	c.(13381-13383)Gaa>Aaa	p.E4461K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4461K|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4461					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCAGACTTTCAACTAGTGCC	0.453																																																	0													106.0	100.0	102.0					6																	90383048		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13381G>A	6.37:g.90383048C>T	ENSP00000358400:p.Glu4461Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4461K	ENST00000369393.3	37	c.13381	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237850	0.22711	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.95	1.55	0.23275	.	0.266963	0.37483	N	0.002071	T	0.00552	0.0018	N	0.16368	0.405	0.24564	N	0.993955	B	0.02656	0.0	B	0.04013	0.001	T	0.48479	-0.9032	10	0.28530	T	0.3	.	3.5242	0.07753	0.0:0.335:0.2017:0.4633	.	4461	Q9NU22	MDN1_HUMAN	K	4461	ENSP00000358400:E4461K;ENSP00000413970:E4461K	ENSP00000358400:E4461K	E	-	1	0	MDN1	90439769	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	1.264000	0.33015	0.383000	0.24910	-0.140000	0.14226	GAA	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383048	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90466072	90466072	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:90466072C>T	ENST00000369393.3	-	20	2855	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	MDN1_ENST00000428876.1_Missense_Mutation_p.E914K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	914					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTAAGTCTTCTTTGCTTTCT	0.299																																																	0													174.0	173.0	174.0					6																	90466072		2203	4296	6499	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2740G>A	6.37:g.90466072C>T	ENSP00000358400:p.Glu914Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E914K	ENST00000369393.3	37	c.2740	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473069	0.43942	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.48522	0.81;0.81;0.81	5.95	5.95	0.96441	.	0.184288	0.48767	D	0.000180	T	0.18467	0.0443	L	0.29908	0.895	0.31067	N	0.713506	B;B	0.20887	0.049;0.017	B;B	0.15484	0.011;0.013	T	0.03728	-1.1009	10	0.10902	T	0.67	.	15.9279	0.79635	0.1357:0.8643:0.0:0.0	.	841;914	Q5T795;Q9NU22	.;MDN1_HUMAN	K	914;914;841	ENSP00000358400:E914K;ENSP00000413970:E914K;ENSP00000409664:E841K	ENSP00000358400:E914K	E	-	1	0	MDN1	90522793	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.207000	0.51106	2.826000	0.97356	0.563000	0.77884	GAA	MDN1	-	pirsf_Midasin		0.299	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90466072	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
MEDAG	84935	genome.wustl.edu	37	13	31495779	31495779	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:31495779G>A	ENST00000380482.4	+	4	908	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	195					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											CTTTGCATATGAATTCAAAGC	0.348																																																	0													95.0	96.0	96.0					13																	31495779		2203	4300	6503	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.583G>A	13.37:g.31495779G>A	ENSP00000369849:p.Glu195Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.E195K	ENST00000380482.4	37	c.583	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198862	0.58126	.	.	ENSG00000102802	ENST00000380482	T	0.43688	0.94	5.47	5.47	0.80525	.	0.229483	0.45361	D	0.000379	T	0.47911	0.1471	N	0.14661	0.345	0.39595	D	0.969641	D	0.67145	0.996	D	0.77557	0.99	T	0.52041	-0.8628	10	0.42905	T	0.14	-22.7149	16.2429	0.82424	0.0:0.0:1.0:0.0	.	195	Q5VYS4	CM033_HUMAN	K	195	ENSP00000369849:E195K	ENSP00000369849:E195K	E	+	1	0	C13orf33	30393779	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	4.164000	0.58190	2.579000	0.87056	0.563000	0.77884	GAA	MEDAG	-	NULL		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1	G	NM_032849		31495779	+1	no_errors	ENST00000380482	ensembl	human	known	70_37	missense	SNP	1.000	A
MEDAG	84935	genome.wustl.edu	37	13	31495791	31495791	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:31495791G>A	ENST00000380482.4	+	4	920	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	199					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ATTCAAAGCTGATGCATTATT	0.343																																																	0													97.0	98.0	98.0					13																	31495791		2203	4300	6503	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.595G>A	13.37:g.31495791G>A	ENSP00000369849:p.Asp199Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.D199N	ENST00000380482.4	37	c.595	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440685	0.63067	.	.	ENSG00000102802	ENST00000380482	T	0.69926	-0.44	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.32530	0.975	0.42829	D	0.994017	D	0.67145	0.996	D	0.79784	0.993	T	0.77351	-0.2620	10	0.87932	D	0	-23.7354	15.9427	0.79771	0.0:0.0:1.0:0.0	.	199	Q5VYS4	CM033_HUMAN	N	199	ENSP00000369849:D199N	ENSP00000369849:D199N	D	+	1	0	C13orf33	30393791	0.998000	0.40836	0.375000	0.26029	0.401000	0.30781	4.136000	0.58004	2.509000	0.84616	0.462000	0.41574	GAT	MEDAG	-	NULL		0.343	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1	G	NM_032849		31495791	+1	no_errors	ENST00000380482	ensembl	human	known	70_37	missense	SNP	0.975	A
MEIS1	4211	genome.wustl.edu	37	2	66664989	66664989	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:66664989C>T	ENST00000272369.9	+	2	590	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	MEIS1_ENST00000560281.2_Silent_p.L45L|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000407092.2_Silent_p.L45L|MEIS1_ENST00000495021.2_5'Flank|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000398506.2_Silent_p.L43L|MEIS1_ENST00000488550.1_Silent_p.L45L|MEIS1_ENST00000444274.2_Silent_p.L13L	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	45					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CGGGCCTCCTCTGCACTCGCA	0.597																																																	0													41.0	44.0	43.0					2																	66664989		2103	4235	6338	SO:0001819	synonymous_variant	4211				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.133C>T	2.37:g.66664989C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV50	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L45	ENST00000272369.9	37	c.133	CCDS46309.1	2																																																																																			MEIS1	-	NULL		0.597	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	C	NM_002398		66664989	+1	no_errors	ENST00000407092	ensembl	human	known	70_37	silent	SNP	1.000	T
MEIS2	4212	genome.wustl.edu	37	15	37188873	37188873	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:37188873C>T	ENST00000561208.1	-	10	1410	c.992G>A	c.(991-993)aGa>aAa	p.R331K	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.R331K|MEIS2_ENST00000397624.3_Missense_Mutation_p.R243K|MEIS2_ENST00000557796.2_Missense_Mutation_p.R318K|MEIS2_ENST00000338564.5_Missense_Mutation_p.R331K|MEIS2_ENST00000559561.1_Missense_Mutation_p.R331K|MEIS2_ENST00000382766.2_Missense_Mutation_p.R331K|MEIS2_ENST00000424352.2_Missense_Mutation_p.R331K|MEIS2_ENST00000397620.2_Missense_Mutation_p.R243K|MEIS2_ENST00000559085.1_Missense_Mutation_p.R318K|MEIS2_ENST00000340545.5_Missense_Mutation_p.R318K|MEIS2_ENST00000219869.9_Missense_Mutation_p.R185K			O14770	MEIS2_HUMAN	Meis homeobox 2	331					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TATTCTTCTTCTGGCATTAAT	0.418																																																	0													156.0	138.0	144.0					15																	37188873		2201	4297	6498	SO:0001583	missense	4212			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.992G>A	15.37:g.37188873C>T	ENSP00000453793:p.Arg331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R331K	ENST00000561208.1	37	c.992	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785971	0.90282	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.99404	4.55	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.996;1.0;0.993;0.996;1.0;0.995;0.997;0.997;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.969;0.954;0.999;0.971;0.987;0.999;0.996;0.983;0.991;0.997	D	0.96301	0.9221	10	0.72032	D	0.01	-5.7081	20.8598	0.99761	0.0:1.0:0.0:0.0	.	318;331;331;331;331;185;243;318;318;27	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98;B7Z6F6;Q6V703	.;.;MEIS2_HUMAN;.;.;.;.;.;.;.	K	331;331;331;331;331;318;318;243;185	ENSP00000341400:R331K;ENSP00000372216:R331K;ENSP00000404185:R331K;ENSP00000391887:R331K;ENSP00000339549:R318K;ENSP00000380745:R243K;ENSP00000219869:R185K	ENSP00000219869:R185K	R	-	2	0	MEIS2	34976165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	AGA	MEIS2	-	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.418	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	C	NM_170677		37188873	-1	no_errors	ENST00000561208	ensembl	human	known	70_37	missense	SNP	1.000	T
MEP1A	4224	genome.wustl.edu	37	6	46793026	46793026	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:46793026G>C	ENST00000230588.4	+	8	583	c.574G>C	c.(574-576)Gac>Cac	p.D192H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	192	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCACAACTTTGACACCTATGA	0.423																																																	0													140.0	120.0	127.0					6																	46793026		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.574G>C	6.37:g.46793026G>C	ENSP00000230588:p.Asp192His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.D192H	ENST00000230588.4	37	c.574	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748328	0.30955	.	.	ENSG00000112818	ENST00000230588	T	0.64085	-0.08	6.16	0.997	0.19851	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.203416	0.64402	D	0.000015	T	0.37073	0.0990	L	0.41356	1.27	0.27439	N	0.953763	P;B	0.38535	0.635;0.063	B;B	0.41894	0.369;0.026	T	0.28650	-1.0037	10	0.72032	D	0.01	-23.5203	10.5573	0.45125	0.685:0.0:0.315:0.0	.	220;192	B7ZL91;Q16819	.;MEP1A_HUMAN	H	192	ENSP00000230588:D192H	ENSP00000230588:D192H	D	+	1	0	MEP1A	46900985	0.014000	0.17966	0.976000	0.42696	0.618000	0.37518	0.446000	0.21694	0.197000	0.20387	-0.300000	0.09419	GAC	MEP1A	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin		0.423	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	G	NM_005588		46793026	+1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.979	C
MIR34A	407040	genome.wustl.edu	37	1	9211750	9211750	+	RNA	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:9211750C>G	ENST00000385130.1	-	0	86					NR_029610.1				microRNA 34a																		TGCAGCACTTCTAGGGCAGTA	0.557																																																	0													318.0	288.0	297.0					1																	9211750		1568	3582	5150			407040					1p36.22|1p36.22	2011-09-12		2008-12-18	ENSG00000207865	ENSG00000207865		"""ncRNAs / Micro RNAs"""	31635	non-coding RNA	RNA, micro		611172		MIRN34A			Standard	NR_029610		Approved	hsa-mir-34a					1.37:g.9211750C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000385130.1	37	NULL		1																																																																																			MIR34A	-	-		0.557	MIR34A-201	KNOWN	basic	miRNA	MIR34A	HGNC	miRNA		C	NR_029610		9211750	-1	no_errors	ENST00000385130	ensembl	human	known	70_37	rna	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49433090	49433090	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:49433090G>A	ENST00000301067.7	-	33	8280	c.8281C>T	c.(8281-8283)Ctg>Ttg	p.L2761L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2761					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTGGCCCCAGGATGGGGCCA	0.602																																																	0													33.0	39.0	37.0					12																	49433090		1858	4095	5953	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8281C>T	12.37:g.49433090G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2761	ENST00000301067.7	37	c.8281	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49433090	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.001	A
KMT2C	58508	genome.wustl.edu	37	7	151878287	151878287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151878287G>A	ENST00000262189.6	-	36	6876	c.6658C>T	c.(6658-6660)Cag>Tag	p.Q2220*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2220*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2220	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTGGTGGCTGAGAGTAAGGG	0.468																																																	0													84.0	80.0	81.0					7																	151878287		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6658C>T	7.37:g.151878287G>A	ENSP00000262189:p.Gln2220*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2220*	ENST00000262189.6	37	c.6658	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.064666	0.99821	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.37	5.37	0.77165	.	0.154508	0.29980	N	0.010707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.4763	0.94991	0.0:0.0:1.0:0.0	.	.	.	.	X	2220	.	ENSP00000262189:Q2220X	Q	-	1	0	MLL3	151509220	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	7.531000	0.81973	2.677000	0.91161	0.655000	0.94253	CAG	MLL3	-	NULL		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878287	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151878464	151878464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151878464G>A	ENST00000262189.6	-	36	6699	c.6481C>T	c.(6481-6483)Caa>Taa	p.Q2161*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2161*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2161	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGGAGGTTGAGAGTAAGGG	0.498																																																	0													124.0	130.0	128.0					7																	151878464		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6481C>T	7.37:g.151878464G>A	ENSP00000262189:p.Gln2161*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2161*	ENST00000262189.6	37	c.6481	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	48	14.768445	0.99809	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.51	5.51	0.81932	.	0.000000	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.203	0.89844	0.0:0.0:1.0:0.0	.	.	.	.	X	2161	.	ENSP00000262189:Q2161X	Q	-	1	0	MLL3	151509397	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	5.360000	0.66086	2.600000	0.87896	0.655000	0.94253	CAA	MLL3	-	NULL		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151878464	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151947007	151947007	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:151947007C>G	ENST00000262189.6	-	13	1985	c.1767G>C	c.(1765-1767)aaG>aaC	p.K589N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K589N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	589					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGATGACTCTTCTGTTGCT	0.363																																																	0													156.0	125.0	136.0					7																	151947007		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1767G>C	7.37:g.151947007C>G	ENSP00000262189:p.Lys589Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K589N	ENST00000262189.6	37	c.1767	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402209	0.25291	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83591	-1.74;-1.74	5.45	-0.367	0.12541	.	0.767112	0.11277	N	0.580739	T	0.64811	0.2632	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45234	-0.9275	10	0.16420	T	0.52	.	3.0599	0.06196	0.4131:0.2481:0.0:0.3388	.	589	Q8NEZ4	MLL3_HUMAN	N	589	ENSP00000262189:K589N;ENSP00000347325:K589N	ENSP00000262189:K589N	K	-	3	2	MLL3	151577940	0.000000	0.05858	0.001000	0.08648	0.284000	0.27059	0.066000	0.14489	0.017000	0.15025	0.650000	0.86243	AAG	MLL3	-	NULL		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151947007	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.000	G
MLPH	79083	genome.wustl.edu	37	2	238434401	238434401	+	Missense_Mutation	SNP	C	C	T	rs139390935	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:238434401C>T	ENST00000264605.3	+	7	1127	c.833C>T	c.(832-834)cCg>cTg	p.P278L	MLPH_ENST00000409373.1_Missense_Mutation_p.P238L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.P278L|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.P278L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	278					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAGCTCTGCCCGCCTGGAGGC	0.672													C|||	4	0.000798722	0.0	0.0	5008	,	,		17247	0.0		0.0	False		,,,				2504	0.0041																0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	37.0	39.0	38.0		833,833	-3.7	0.0	2	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLPH	NM_001042467.1,NM_024101.5	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	278/573,278/601	238434401	1,13005	2203	4300	6503	SO:0001583	missense	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.833C>T	2.37:g.238434401C>T	ENSP00000264605:p.Pro278Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.P278L	ENST00000264605.3	37	c.833	CCDS2518.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.366|3.366	-0.129388|-0.129388	0.06753|0.06753	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115648|ENSG00000115648	ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373|ENST00000437893;ENST00000436965	T;T;T;T|T	0.21932|0.31247	2.31;2.29;2.21;1.98|1.5	3.35|3.35	-3.74|-3.74	0.04385|0.04385	.|.	2.107420|.	0.02170|.	N|.	0.059562|.	T|T	0.09024|0.09024	0.0223|0.0223	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.09022|.	0.002;0.002;0.001;0.002;0.002;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.001;0.001;0.0;0.002;0.001;0.0|.	T|T	0.37776|0.37776	-0.9691|-0.9691	10|6	0.06891|.	T|.	0.86|.	-0.4526|-0.4526	9.5081|9.5081	0.39060|0.39060	0.0:0.6203:0.0:0.3797|0.0:0.6203:0.0:0.3797	.|.	278;162;278;238;278;278|.	B4DKW7;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36|.	.;.;.;.;.;MELPH_HUMAN|.	L|C	278;278;278;238|85;11	ENSP00000264605:P278L;ENSP00000414849:P278L;ENSP00000341845:P278L;ENSP00000386780:P238L|ENSP00000412438:R85C	ENSP00000264605:P278L|.	P|R	+|+	2|1	0|0	MLPH|MLPH	238099140|238099140	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	-2.080000|-2.080000	0.01368|0.01368	-0.855000|-0.855000	0.04125|0.04125	-1.423000|-1.423000	0.01107|0.01107	CCG|CGC	MLPH	-	NULL		0.672	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238434401	+1	no_errors	ENST00000264605	ensembl	human	known	70_37	missense	SNP	0.000	T
MMP12	4321	genome.wustl.edu	37	11	102738047	102738047	+	RNA	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:102738047C>G	ENST00000532855.1	-	0	960							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GTGACAGCATCAAAACTCAAA	0.373																																																	0													109.0	103.0	105.0					11																	102738047		1850	4099	5949			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738047C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	-	NULL	ENST00000532855.1	37	NULL		11																																																																																			MMP12	-	-		0.373	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102738047	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	rna	SNP	1.000	G
MPP5	64398	genome.wustl.edu	37	14	67769170	67769170	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:67769170G>A	ENST00000261681.4	+	7	1506	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	MPP5_ENST00000555925.1_Missense_Mutation_p.R248Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	282	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATCATTAGCCGGATAGTAAAA	0.338																																																	0													99.0	103.0	102.0					14																	67769170		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.845G>A	14.37:g.67769170G>A	ENSP00000261681:p.Arg282Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R282Q	ENST00000261681.4	37	c.845	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.517357	0.96416	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28255	1.62;1.62	5.8	5.8	0.92144	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65463	-0.6162	10	0.72032	D	0.01	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	282	Q8N3R9	MPP5_HUMAN	Q	282;248	ENSP00000261681:R282Q;ENSP00000451488:R248Q	ENSP00000261681:R282Q	R	+	2	0	MPP5	66838923	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.367000	0.97148	2.741000	0.93983	0.650000	0.86243	CGG	MPP5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.338	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67769170	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	A
MPP7	143098	genome.wustl.edu	37	10	28408627	28408627	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:28408627C>T	ENST00000375732.1	-	11	1164	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MPP7_ENST00000337532.5_Missense_Mutation_p.R302Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R177Q|MPP7_ENST00000375719.3_Missense_Mutation_p.R302Q|MPP7_ENST00000540098.1_Missense_Mutation_p.R302Q			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	302					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TATTTCTGGTCGTCTCAAAGC	0.368																																																	0													108.0	111.0	110.0					10																	28408627		2203	4300	6503	SO:0001583	missense	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.905G>A	10.37:g.28408627C>T	ENSP00000364884:p.Arg302Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain	p.R302Q	ENST00000375732.1	37	c.905	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882535	0.51908	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82526	-1.62;-1.62;-1.62;-1.62;1.51;-1.62	5.78	4.87	0.63330	Src homology-3 domain (1);	0.177277	0.46758	D	0.000263	T	0.68732	0.3033	L	0.28115	0.83	0.45528	D	0.99848	B	0.22746	0.074	B	0.17433	0.018	T	0.61123	-0.7126	10	0.10111	T	0.7	.	9.6834	0.40082	0.0:0.7956:0.0:0.2044	.	302	Q5T2T1	MPP7_HUMAN	Q	302;302;302;302;63;177	ENSP00000364884:R302Q;ENSP00000337907:R302Q;ENSP00000438693:R302Q;ENSP00000364871:R302Q;ENSP00000398319:R63Q;ENSP00000405397:R177Q	ENSP00000337907:R302Q	R	-	2	0	MPP7	28448633	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.853000	0.39358	2.742000	0.94016	0.650000	0.86243	CGA	MPP7	-	superfamily_SH3_domain		0.368	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	C	NM_173496		28408627	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	missense	SNP	1.000	T
MPRIP	23164	genome.wustl.edu	37	17	17000095	17000095	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:17000095G>A	ENST00000341712.4	+	3	267				MPRIP_ENST00000395811.5_Intron|MPRIP_ENST00000395804.3_Intron|MPRIP_ENST00000395807.2_3'UTR|MPRIP_ENST00000444976.1_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCTTCCCAGTGACTCTCCTTG	0.527																																																	0																																										SO:0001627	intron_variant	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.267+18705G>A	17.37:g.17000095G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	RNA	SNP	-	NULL	ENST00000341712.4	37	NULL	CCDS32578.1	17																																																																																			MPRIP	-	-		0.527	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1	G	NM_015134		17000095	+1	no_errors	ENST00000395807	ensembl	human	known	70_37	rna	SNP	0.000	A
MRPL4	51073	genome.wustl.edu	37	19	10369970	10369970	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:10369970G>A	ENST00000253099.6	+	9	1026				CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Intron|MRPL4_ENST00000393733.2_Missense_Mutation_p.D288N	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		ggccctgcacgatgtgccccg	0.647																																																	0																																										SO:0001627	intron_variant	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.740-323G>A	19.37:g.10369970G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.D288N	ENST00000253099.6	37	c.862	CCDS12230.1	19																																																																																			MRPL4	-	NULL		0.647	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	G			10369970	+1	no_errors	ENST00000393733	ensembl	human	putative	70_37	missense	SNP	0.000	A
MRPL4	51073	genome.wustl.edu	37	19	10370058	10370058	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:10370058G>C	ENST00000253099.6	+	9	1026				CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Intron|MRPL4_ENST00000393733.2_Missense_Mutation_p.G317A	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCAGGCACAGGACCGAGCCTG	0.677																																																	0																																										SO:0001627	intron_variant	51073			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.740-235G>C	19.37:g.10370058G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.G317A	ENST00000253099.6	37	c.950	CCDS12230.1	19																																																																																			MRPL4	-	NULL		0.677	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	G			10370058	+1	no_errors	ENST00000393733	ensembl	human	putative	70_37	missense	SNP	0.003	C
MSC	9242	genome.wustl.edu	37	8	72756051	72756051	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:72756051G>A	ENST00000325509.4	-	1	652	c.363C>T	c.(361-363)cgC>cgT	p.R121R	RP11-383H13.1_ENST00000537896.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	121	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCTCAGCACGCGCATCCGGG	0.677											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	29.0	28.0					8																	72756051		2203	4300	6503	SO:0001819	synonymous_variant	9242				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.363C>T	8.37:g.72756051G>A		Somatic	1140	WXS	Illumina HiSeq	Phase_IV	O75946|Q53XZ2|Q9BRE7	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R121	ENST00000325509.4	37	c.363	CCDS43746.1	8																																																																																			MSC	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.677	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSC	HGNC	protein_coding	OTTHUMT00000378974.1	G	NM_005098		72756051	-1	no_errors	ENST00000325509	ensembl	human	known	70_37	silent	SNP	1.000	A
MSTO1	55154	genome.wustl.edu	37	1	155581080	155581080	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155581080G>C	ENST00000245564.2	+	4	388	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Intron|MSTO1_ENST00000452804.2_Missense_Mutation_p.E122Q|MSTO1_ENST00000538143.1_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	122					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TCTGAGTGCAGAGGTGAGGGC	0.478																																																	0													30.0	27.0	28.0					1																	155581080		2202	4295	6497	SO:0001583	missense	55154			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.364G>C	1.37:g.155581080G>C	ENSP00000245564:p.Glu122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_myosin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.E122Q	ENST00000245564.2	37	c.364	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026890	0.35797	.	.	ENSG00000125459	ENST00000452804;ENST00000245564	T	0.52057	0.68	3.07	3.07	0.35406	Tubulin/FtsZ, GTPase domain (1);	0.276318	0.34460	U	0.003947	T	0.13372	0.0324	N	0.19112	0.55	0.80722	D	1	B;B;B	0.27229	0.172;0.11;0.13	B;B;B	0.24974	0.041;0.038;0.057	T	0.05225	-1.0898	10	0.20519	T	0.43	.	7.6187	0.28173	0.1271:0.0:0.8729:0.0	.	122;122;122	Q9BUK6;Q9BUK6-2;Q9BUK6-3	MSTO1_HUMAN;.;.	Q	122	ENSP00000245564:E122Q	ENSP00000245564:E122Q	E	+	1	0	MSTO1	153847704	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.063000	0.41423	1.694000	0.51137	0.313000	0.20887	GAG	MSTO1	-	superfamily_Tubulin_FtsZ_GTPase		0.478	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	G	NM_018116		155581080	+1	no_errors	ENST00000245564	ensembl	human	known	70_37	missense	SNP	1.000	C
MTDH	92140	genome.wustl.edu	37	8	98735262	98735262	+	Splice_Site	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:98735262G>C	ENST00000336273.3	+	11	2005	c.1677G>C	c.(1675-1677)caG>caC	p.Q559H	MTDH_ENST00000519934.1_Splice_Site_p.Q503H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	559					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTCCTTCACAGAGTAAGTAAT	0.403																																																	0													141.0	139.0	140.0					8																	98735262		2203	4300	6503	SO:0001630	splice_region_variant	92140			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1678+1G>C	8.37:g.98735262G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.Q559H	ENST00000336273.3	37	c.1677	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872610	0.72180	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.64085	-0.03;-0.08	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	L	0.44542	1.39	0.53688	D	0.999974	D	0.76494	0.999	D	0.85130	0.997	T	0.71185	-0.4667	10	0.40728	T	0.16	-9.4615	13.6819	0.62491	0.071:0.0:0.929:0.0	.	559	Q86UE4	LYRIC_HUMAN	H	559;503;182	ENSP00000338235:Q559H;ENSP00000428168:Q503H	ENSP00000338235:Q559H	Q	+	3	2	MTDH	98804438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.196000	0.51020	1.576000	0.49790	0.655000	0.94253	CAG	MTDH	-	NULL		0.403	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	G		Missense_Mutation	98735262	+1	no_errors	ENST00000336273	ensembl	human	known	70_37	missense	SNP	1.000	C
MTHFD1	4522	genome.wustl.edu	37	14	64898256	64898256	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:64898256C>T	ENST00000545908.1	+	14	1715	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.L440F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	440	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTAGTTTAATCTCCACCTCAC	0.438																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0													87.0	73.0	78.0					14																	64898256		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1486C>T	14.37:g.64898256C>T	ENSP00000438588:p.Leu496Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L496F	ENST00000545908.1	37	c.1486		14	.	.	.	.	.	.	.	.	.	.	C	34	5.333055	0.95758	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.87	5.87	0.94306	.	0.060958	0.64402	D	0.000002	T	0.77205	0.4096	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.82816	-0.0270	10	0.87932	D	0	-18.8385	20.5827	0.99408	0.0:1.0:0.0:0.0	.	496;440;440	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	F	496;440;496;420	ENSP00000438588:L496F;ENSP00000450560:L440F;ENSP00000216605:L496F;ENSP00000451309:L420F	ENSP00000216605:L440F	L	+	1	0	MTHFD1	63968009	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CTC	MTHFD1	-	pfam_Formate_THF_ligase		0.438	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	C			64898256	+1	no_errors	ENST00000216605	ensembl	human	known	70_37	missense	SNP	1.000	T
MTRF1L	54516	genome.wustl.edu	37	6	153310988	153310988	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:153310988G>A	ENST00000367233.5	-	0	1184				RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like							mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		ATGTACTGTAGAATTTTTCTA	0.313																																																	0													5.0	6.0	6.0					6																	153310988		1779	3740	5519	SO:0001624	3_prime_UTR_variant	54516			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.*42C>T	6.37:g.153310988G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	RNA	SNP	-	NULL	ENST00000367233.5	37	NULL	CCDS5243.1	6																																																																																			MTRF1L	-	-		0.313	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1	G	NM_019041		153310988	-1	no_errors	ENST00000461949	ensembl	human	known	70_37	rna	SNP	0.002	A
MTX1	4580	genome.wustl.edu	37	1	155180435	155180435	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155180435G>C	ENST00000368376.3	+	3	784				MTX1_ENST00000316721.4_Intron|MTX1_ENST00000609421.1_Intron|THBS3_ENST00000541990.1_5'Flank|RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000486260.1_5'Flank|THBS3_ENST00000457183.2_5'Flank|THBS3_ENST00000368378.3_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GACTTGGATAGAGGGGGCTGC	0.483																																																	0													81.0	79.0	79.0					1																	155180435		2203	4300	6503	SO:0001627	intron_variant	4580				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.678+17G>C	1.37:g.155180435G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	-	NULL	ENST00000368376.3	37	NULL	CCDS1100.1	1																																																																																			MTX1	-	-		0.483	MTX1-001	KNOWN	basic|CCDS	protein_coding	MTX1	HGNC	protein_coding	OTTHUMT00000086844.1	G	NM_198883		155180435	+1	no_errors	ENST00000481771	ensembl	human	known	70_37	rna	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195505972	195505972	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:195505972G>C	ENST00000463781.3	-	2	12938	c.12479C>G	c.(12478-12480)tCt>tGt	p.S4160C	MUC4_ENST00000475231.1_Missense_Mutation_p.S4160C|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGAGGTGGTGTG	0.582																																																	0													23.0	14.0	17.0					3																	195505972		670	1556	2226	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12479C>G	3.37:g.195505972G>C	ENSP00000417498:p.Ser4160Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S4160C	ENST00000463781.3	37	c.12479	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	3.970	-0.008639	0.07727	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36340	1.32;1.26	.	.	.	.	.	.	.	.	T	0.15219	0.0367	N	0.14661	0.345	0.09310	N	0.999999	P	0.35714	0.517	B	0.30943	0.122	T	0.14008	-1.0488	7	.	.	.	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	4032	E7ESK3	.	C	4160	ENSP00000417498:S4160C;ENSP00000420243:S4160C	.	S	-	2	0	MUC4	196990751	0.428000	0.25522	0.006000	0.13384	0.006000	0.05464	3.021000	0.49651	0.088000	0.17205	0.089000	0.15464	TCT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195505972	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.302	C
MUC4	4585	genome.wustl.edu	37	3	195513669	195513669	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:195513669G>C	ENST00000463781.3	-	2	5241	c.4782C>G	c.(4780-4782)tcC>tcG	p.S1594S	MUC4_ENST00000475231.1_Silent_p.S1594S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTTTGGATGCTGAGG	0.572																																																	0													38.0	30.0	32.0					3																	195513669		672	1580	2252	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4782C>G	3.37:g.195513669G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1594	ENST00000463781.3	37	c.4782	CCDS54700.1	3																																																																																			MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195513669	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.004	C
MUC4	4585	genome.wustl.edu	37	3	195513868	195513868	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:195513868G>A	ENST00000463781.3	-	2	5042	c.4583C>T	c.(4582-4584)tCa>tTa	p.S1528L	MUC4_ENST00000475231.1_Missense_Mutation_p.S1528L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAAGGCT	0.577																																																	0													3.0	3.0	3.0					3																	195513868		597	1322	1919	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4583C>T	3.37:g.195513868G>A	ENSP00000417498:p.Ser1528Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1528L	ENST00000463781.3	37	c.4583	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	9.124	1.009614	0.19277	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.34;1.33	0.844	0.844	0.18943	.	.	.	.	.	T	0.16811	0.0404	N	0.19112	0.55	0.22096	N	0.999366	P	0.38110	0.618	B	0.25759	0.063	T	0.10965	-1.0607	8	.	.	.	.	7.477	0.27382	1.0E-4:0.0:0.9999:0.0	.	1528	E7ESK3	.	L	1528	ENSP00000417498:S1528L;ENSP00000420243:S1528L	.	S	-	2	0	MUC4	196998263	0.043000	0.20138	0.042000	0.18584	0.042000	0.13812	2.492000	0.45311	0.088000	0.17205	0.089000	0.15464	TCA	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195513868	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.970	A
MUC5B	727897	genome.wustl.edu	37	11	1269088	1269088	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1269088G>A	ENST00000529681.1	+	31	11036	c.10978G>A	c.(10978-10980)Gaa>Aaa	p.E3660K	MUC5B_ENST00000447027.1_Missense_Mutation_p.E3663K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3660	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCAACTATGAAATCCGTGT	0.617																																																	0													34.0	41.0	39.0					11																	1269088		1876	4042	5918	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10978G>A	11.37:g.1269088G>A	ENSP00000436812:p.Glu3660Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.E3663K	ENST00000529681.1	37	c.10987	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762316	0.31228	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.0	4.05	-8.1	0.01086	.	.	.	.	.	T	0.31389	0.0795	M	0.68728	2.09	0.09310	N	1	P;B	0.47841	0.901;0.062	P;B	0.61533	0.89;0.048	T	0.35500	-0.9786	9	0.87932	D	0	.	4.7991	0.13287	0.3216:0.4239:0.1784:0.0762	.	4188;3663	A7Y9J9;E9PBJ0	.;.	K	3660;3663;3632;3565	ENSP00000436812:E3660K;ENSP00000415793:E3663K	ENSP00000343037:E3632K	E	+	1	0	MUC5B	1225664	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-7.232000	0.00041	-2.342000	0.00624	0.478000	0.44815	GAA	MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269088	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1269198	1269198	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1269198G>C	ENST00000529681.1	+	31	11146	c.11088G>C	c.(11086-11088)ctG>ctC	p.L3696L	MUC5B_ENST00000447027.1_Silent_p.L3699L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3696	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACAAAGCTGACCACAACAG	0.642																																																	0													114.0	146.0	135.0					11																	1269198		2070	4178	6248	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11088G>C	11.37:g.1269198G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L3699	ENST00000529681.1	37	c.11097	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1269198	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.001	C
MUC5B	727897	genome.wustl.edu	37	11	1272287	1272287	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:1272287C>T	ENST00000529681.1	+	31	14235	c.14177C>T	c.(14176-14178)tCc>tTc	p.S4726F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4729F|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4726	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccacttcctcctccaGTCCA	0.602																																																	0													146.0	171.0	163.0					11																	1272287		2156	4244	6400	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14177C>T	11.37:g.1272287C>T	ENSP00000436812:p.Ser4726Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4729F	ENST00000529681.1	37	c.14186	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.430	-0.116301	0.06881	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.22743	1.94;2.12	1.37	1.37	0.22104	.	.	.	.	.	T	0.19725	0.0474	L	0.43152	1.355	0.09310	N	1	P	0.50156	0.932	P	0.44359	0.447	T	0.12016	-1.0564	9	0.87932	D	0	.	7.7881	0.29103	0.0:1.0:0.0:0.0	.	4729	E9PBJ0	.	F	4726;4729;4670;499	ENSP00000436812:S4726F;ENSP00000415793:S4729F	ENSP00000343037:S4670F	S	+	2	0	MUC5B	1228863	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.206000	0.09398	0.733000	0.32492	0.194000	0.17425	TCC	MUC5B	-	NULL		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1272287	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.003	T
MUM1	84939	genome.wustl.edu	37	19	1356398	1356398	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1356398G>C	ENST00000415183.3	+	1	36	c.10G>C	c.(10-12)Gat>Cat	p.D4H	MUM1_ENST00000344663.3_Missense_Mutation_p.D4H|MUM1_ENST00000591806.1_Missense_Mutation_p.D4H|MUM1_ENST00000311401.5_5'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	3					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGATGGCGGATGCCAAGTA	0.488																																																	0													149.0	118.0	128.0					19																	1356398		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.10G>C	19.37:g.1356398G>C	ENSP00000394925:p.Asp4His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.D4H	ENST00000415183.3	37	c.10		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.404897|3.404897	0.62288|0.62288	.|.	.|.	ENSG00000160953|ENSG00000160953	ENST00000344663;ENST00000415183|ENST00000356765	T;T|.	0.35789|.	1.29;1.29|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.465604|.	0.19963|.	N|.	0.102173|.	T|T	0.66963|0.66963	0.2843|0.2843	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.98|.	T|T	0.62789|0.62789	-0.6780|-0.6780	10|6	0.87932|0.09843	D|T	0|0.71	.|.	13.1482|13.1482	0.59474|0.59474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;3|.	B7ZLY8;Q2TAK8|.	.;MUM1_HUMAN|.	H|A	4|31	ENSP00000345789:D4H;ENSP00000394925:D4H|.	ENSP00000345789:D4H|ENSP00000349207:G31A	D|G	+|+	1|2	0|0	MUM1|MUM1	1307398|1307398	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.407000|0.407000	0.30961|0.30961	4.445000|4.445000	0.60007|0.60007	2.138000|2.138000	0.66242|0.66242	0.563000|0.563000	0.77884|0.77884	GAT|GGA	MUM1	-	NULL		0.488	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1356398	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	1.000	C
MUM1	84939	genome.wustl.edu	37	19	1371277	1371277	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1371277G>A	ENST00000415183.3	+	12	2060	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	MUM1_ENST00000344663.3_Intron|MUM1_ENST00000591806.1_Intron|MUM1_ENST00000311401.5_Intron			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	0					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGAGACGGAGCCGCTTAC	0.627																																																	0																																										SO:0001819	synonymous_variant	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.2034G>A	19.37:g.1371277G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP	pfam_PWWP	p.R678	ENST00000415183.3	37	c.2034		19																																																																																			MUM1	-	NULL		0.627	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1371277	+1	no_errors	ENST00000415183	ensembl	human	novel	70_37	silent	SNP	0.000	A
MXI1	4601	genome.wustl.edu	37	10	111967748	111967748	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:111967748C>T	ENST00000332674.5	+	1	386	c.182C>T	c.(181-183)tCg>tTg	p.S61L	RP11-549L6.3_ENST00000451656.1_RNA|MXI1_ENST00000361248.4_5'Flank	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	74				S -> T (in Ref. 1; AAA75508). {ECO:0000305}.	cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGCGAGAACTCGATGGAGAAG	0.597																																																	0													40.0	39.0	39.0					10																	111967748		2203	4300	6503	SO:0001583	missense	4601			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000332674.5:c.182C>T	10.37:g.111967748C>T	ENSP00000331152:p.Ser61Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S61L	ENST00000332674.5	37	c.182	CCDS7563.1	10	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051726	0.55218	.	.	ENSG00000119950	ENST00000332674;ENST00000453116	T;T	0.48201	0.82;0.84	4.86	3.95	0.45737	.	0.456144	0.21006	N	0.081779	T	0.29288	0.0729	N	0.19112	0.55	0.80722	D	1	B	0.33022	0.394	B	0.22880	0.042	T	0.14504	-1.0470	10	0.87932	D	0	-9.8944	9.9816	0.41817	0.0:0.9031:0.0:0.0969	.	61	P50539-3	.	L	61	ENSP00000331152:S61L;ENSP00000398981:S61L	ENSP00000331152:S61L	S	+	2	0	MXI1	111957738	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.943000	0.56621	1.033000	0.39918	0.448000	0.29417	TCG	MXI1	-	NULL		0.597	MXI1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050314.1	C	NM_130439		111967748	+1	no_errors	ENST00000332674	ensembl	human	known	70_37	missense	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3228085	3228085	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:3228085G>A	ENST00000217939.6	-	7	8313	c.8159C>T	c.(8158-8160)tCg>tTg	p.S2720L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2720	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGTGACCGAAGGGCCGTA	0.607													G|||	1	0.000264901	0.0	0.0	3775	,	,		13098	0.0		0.001	False		,,,				2504	0.0																0													48.0	42.0	44.0					X																	3228085		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8159C>T	X.37:g.3228085G>A	ENSP00000217939:p.Ser2720Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2720L	ENST00000217939.6	37	c.8159	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595340	0.28445	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.12672	2.66	4.32	1.52	0.23074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.638466	0.12916	N	0.428555	T	0.31199	0.0789	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.08046	-1.0741	10	0.51188	T	0.08	.	7.131	0.25502	0.1596:0.1373:0.703:0.0	.	2720	Q9NR99	MXRA5_HUMAN	L	2720	ENSP00000217939:S2720L	ENSP00000217939:S2720L	S	-	2	0	MXRA5	3238085	0.989000	0.36119	0.000000	0.03702	0.037000	0.13140	3.949000	0.56668	-0.074000	0.12820	-1.237000	0.01550	TCG	MXRA5	-	smart_Ig_sub,pfscan_Ig-like		0.607	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3228085	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.007	A
MYBPC2	4606	genome.wustl.edu	37	19	50939936	50939936	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50939936C>T	ENST00000357701.5	+	5	459	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	136	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTACCGCCTCGAGGTCAAAG	0.612																																																	0													108.0	107.0	107.0					19																	50939936		2052	4175	6227	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.408C>T	19.37:g.50939936C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L136	ENST00000357701.5	37	c.408	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50939936	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.624	T
MYH9	4627	genome.wustl.edu	37	22	36717842	36717842	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:36717842C>T	ENST00000216181.5	-	7	960	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	244	Myosin motor.				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						CCATTGACATCAAAGTTGATG	0.502			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													133.0	118.0	123.0					22																	36717842		2203	4300	6503	SO:0001583	missense	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.730G>A	22.37:g.36717842C>T	ENSP00000216181:p.Asp244Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	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.D244N	ENST00000216181.5	37	c.730	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.348316	0.95807	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72835	-0.69	5.22	5.22	0.72569	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.64997	1.995	0.80722	D	1	P	0.44090	0.826	P	0.57960	0.83	T	0.82202	-0.0574	10	0.66056	D	0.02	.	17.914	0.88943	0.0:1.0:0.0:0.0	.	244	P35579	MYH9_HUMAN	N	108;244	ENSP00000216181:D244N	ENSP00000216181:D244N	D	-	1	0	MYH9	35047788	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.818000	0.86416	2.586000	0.87340	0.561000	0.74099	GAT	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.502	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36717842	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO16	23026	genome.wustl.edu	37	13	109365049	109365049	+	Silent	SNP	C	C	A	rs144721835		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:109365049C>A	ENST00000357550.2	+	2	308	c.267C>A	c.(265-267)ctC>ctA	p.L89L	MYO16_ENST00000251041.5_Silent_p.L89L|MYO16_ENST00000356711.2_Silent_p.L89L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCACACCCTCGTCTCCTCGG	0.577																																																	0													111.0	96.0	101.0					13																	109365049		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.267C>A	13.37:g.109365049C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L89	ENST00000357550.2	37	c.267	CCDS32008.1	13																																																																																			MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109365049	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.000	A
MYO16	23026	genome.wustl.edu	37	13	109365057	109365057	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:109365057C>T	ENST00000357550.2	+	2	316	c.275C>T	c.(274-276)tCg>tTg	p.S92L	MYO16_ENST00000251041.5_Missense_Mutation_p.S92L|MYO16_ENST00000356711.2_Missense_Mutation_p.S92L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGTCTCCTCGGGAGGGTCC	0.577																																																	0													103.0	90.0	94.0					13																	109365057		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.275C>T	13.37:g.109365057C>T	ENSP00000350160:p.Ser92Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S92L	ENST00000357550.2	37	c.275	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253291	0.59212	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.51817	0.69;0.69;0.69	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.31685	U	0.007229	T	0.57961	0.2089	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.54200	-0.8329	9	.	.	.	.	14.4228	0.67196	0.0:1.0:0.0:0.0	.	92;92	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	92	ENSP00000349145:S92L;ENSP00000350160:S92L;ENSP00000251041:S92L	.	S	+	2	0	MYO16	108163058	0.998000	0.40836	0.526000	0.27913	0.058000	0.15608	5.058000	0.64300	2.473000	0.83533	0.650000	0.86243	TCG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109365057	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	0.989	T
MYO1B	4430	genome.wustl.edu	37	2	192246290	192246290	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:192246290G>A	ENST00000392318.3	+	14	1535	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	MYO1B_ENST00000304164.4_Missense_Mutation_p.E430K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E430K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E430K|MYO1B_ENST00000496992.1_3'UTR	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	430	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTATATACGGGAGGTAATGTT	0.318																																																	0													65.0	65.0	65.0					2																	192246290		2203	4300	6503	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1288G>A	2.37:g.192246290G>A	ENSP00000376132:p.Glu430Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E430K	ENST00000392318.3	37	c.1288	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.734473	0.96865	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.89	5.89	0.94794	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.982	D	0.96336	0.9247	10	0.87932	D	0	.	20.2449	0.98397	0.0:0.0:1.0:0.0	.	430;430;430	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	K	430	ENSP00000341903:E430K;ENSP00000376132:E430K;ENSP00000306382:E430K;ENSP00000376130:E430K	ENSP00000306382:E430K	E	+	1	0	MYO1B	191954535	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.794000	0.96219	0.637000	0.83480	GAG	MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	G	NM_012223		192246290	+1	no_errors	ENST00000304164	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO1C	4641	genome.wustl.edu	37	17	1370785	1370785	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:1370785G>A	ENST00000575158.1	-	30	3125	c.2949C>T	c.(2947-2949)atC>atT	p.I983I	MYO1C_ENST00000545534.2_Silent_p.I994I|MYO1C_ENST00000361007.2_Silent_p.I983I|MYO1C_ENST00000438665.2_Silent_p.I999I|MYO1C_ENST00000359786.5_Silent_p.I1018I			Q12965	MYO1E_HUMAN	myosin IC	171					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCCTGGTTGATGTTGATGC	0.687																																																	0													79.0	71.0	73.0					17																	1370785		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2949C>T	17.37:g.1370785G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1018	ENST00000575158.1	37	c.3054	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_tail_2		0.687	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1370785	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A
MYPN	84665	genome.wustl.edu	37	10	69970178	69970178	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:69970178C>G	ENST00000358913.5	+	20	4417	c.3929C>G	c.(3928-3930)tCt>tGt	p.S1310C	MYPN_ENST00000540630.1_Missense_Mutation_p.S1310C|MYPN_ENST00000354393.2_Missense_Mutation_p.S1035C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1310	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TATTCATGCTCTTCTCGGAGT	0.493																																																	0													194.0	169.0	177.0					10																	69970178		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3929C>G	10.37:g.69970178C>G	ENSP00000351790:p.Ser1310Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1310C	ENST00000358913.5	37	c.3929	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320888	0.60634	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59502	0.26;0.34;0.32	6.16	6.16	0.99307	.	0.221058	0.39909	N	0.001234	T	0.56891	0.2016	L	0.29908	0.895	0.40658	D	0.982106	D;D;P	0.53885	0.963;0.963;0.771	P;P;B	0.49752	0.621;0.621;0.302	T	0.51679	-0.8675	9	.	.	.	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	1310;1035;1310	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	1035;1035;1310;1310	ENSP00000346369:S1035C;ENSP00000351790:S1310C;ENSP00000441668:S1310C	.	S	+	2	0	MYPN	69640184	1.000000	0.71417	0.995000	0.50966	0.588000	0.36517	6.918000	0.75788	2.937000	0.99478	0.650000	0.86243	TCT	MYPN	-	NULL		0.493	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	C	NM_032578		69970178	+1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	G
NAALAD2	10003	genome.wustl.edu	37	11	89892437	89892437	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:89892437G>A	ENST00000534061.1	+	8	1151	c.921G>A	c.(919-921)aaG>aaA	p.K307K	NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	307	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CACCAGATAAGAGTTGGAAGG	0.363																																																	0													113.0	110.0	111.0					11																	89892437		2201	4299	6500	SO:0001819	synonymous_variant	10003			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.921G>A	11.37:g.89892437G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.R276K	ENST00000534061.1	37	c.827	CCDS8288.1	11																																																																																			NAALAD2	-	NULL		0.363	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	G	NM_005467		89892437	+1	no_errors	ENST00000527493	ensembl	human	known	70_37	missense	SNP	0.001	A
NAB2	4665	genome.wustl.edu	37	12	57483098	57483098	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:57483098G>A	ENST00000300131.3	+	1	422	c.44G>A	c.(43-45)gGa>gAa	p.G15E	NAB2_ENST00000554718.1_3'UTR|TMEM194A_ENST00000553654.1_5'Flank|NAB2_ENST00000357680.4_Missense_Mutation_p.G15E|NAB2_ENST00000342556.6_Missense_Mutation_p.G15E	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	15					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCGCCGGGCGGAGGGGACAGC	0.711																																																	0													7.0	9.0	8.0					12																	57483098		2132	4194	6326	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.44G>A	12.37:g.57483098G>A	ENSP00000300131:p.Gly15Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.G15E	ENST00000300131.3	37	c.44	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888706	0.52014	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	3.96	3.96	0.45880	Nab, N-terminal (1);	0.361928	0.20100	N	0.099251	T	0.39600	0.1084	N	0.08118	0	0.31758	N	0.633723	D	0.76494	0.999	D	0.71184	0.972	T	0.39292	-0.9621	9	0.27785	T	0.31	-1.8133	11.3775	0.49737	0.0:0.0:1.0:0.0	.	15	Q15742	NAB2_HUMAN	E	15	.	ENSP00000300131:G15E	G	+	2	0	NAB2	55769365	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.131000	0.42074	2.036000	0.60181	0.462000	0.41574	GGA	NAB2	-	NULL		0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57483098	+1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A
NADK	65220	genome.wustl.edu	37	1	1691201	1691201	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:1691201C>T	ENST00000341426.5	-	3	485				NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_5'Flank|NADK_ENST00000344463.4_Missense_Mutation_p.R135Q|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.R135Q	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTCTGGCCTCGGGCAGCTCG	0.692																																																	0													4.0	4.0	4.0					1																	1691201		826	1884	2710	SO:0001627	intron_variant	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.263+2189G>A	1.37:g.1691201C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.R135Q	ENST00000341426.5	37	c.404	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545560	0.00926	.	.	ENSG00000008130	ENST00000378625;ENST00000344463	T;T	0.45276	0.9;0.9	1.41	-2.83	0.05769	.	1.369640	0.05893	U	0.628644	T	0.26810	0.0656	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17349	-1.0372	10	0.12766	T	0.61	.	5.6751	0.17743	0.0:0.2868:0.3534:0.3598	.	135	Q5QPS4	.	Q	135	ENSP00000367890:R135Q;ENSP00000340925:R135Q	ENSP00000340925:R135Q	R	-	2	0	NADK	1681061	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.027000	0.01433	-4.559000	0.00042	-1.523000	0.00931	CGA	NADK	-	NULL		0.692	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	C	NM_023018		1691201	-1	no_errors	ENST00000344463	ensembl	human	known	70_37	missense	SNP	0.000	T
NAT9	26151	genome.wustl.edu	37	17	72767952	72767952	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:72767952C>G	ENST00000357814.3	-	7	608	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000580632.1_Missense_Mutation_p.V179L|NAT9_ENST00000583757.1_Missense_Mutation_p.S138T|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Missense_Mutation_p.V184L|NAT9_ENST00000582524.1_Missense_Mutation_p.S139T|NAT9_ENST00000580301.1_Missense_Mutation_p.V178L|NAT9_ENST00000581136.1_Missense_Mutation_p.V174L|NAT9_ENST00000582870.1_Missense_Mutation_p.V183L	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	179	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GACTCACTCACTGTCAGTCTG	0.557																																																	0													73.0	70.0	71.0					17																	72767952		2203	4300	6503	SO:0001583	missense	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.535G>C	17.37:g.72767952C>G	ENSP00000350467:p.Val179Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.V179L	ENST00000357814.3	37	c.535	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	C	5.792	0.330474	0.10956	.	.	ENSG00000109065	ENST00000357814	T	0.42131	0.98	4.99	-7.3	0.01446	.	0.477607	0.20981	N	0.082208	T	0.41650	0.1168	M	0.80847	2.515	0.53688	D	0.999977	B;B	0.16802	0.019;0.012	B;B	0.18263	0.021;0.014	T	0.47497	-0.9113	10	0.14656	T	0.56	-6.7765	21.7112	0.99959	0.0:0.8447:0.0:0.1553	.	178;179	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	L	179	ENSP00000350467:V179L	ENSP00000350467:V179L	V	-	1	0	NAT9	70279547	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.469000	0.06648	-1.368000	0.02149	-0.459000	0.05422	GTG	NAT9	-	NULL		0.557	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	C	NM_015654		72767952	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	missense	SNP	0.020	G
NAV3	89795	genome.wustl.edu	37	12	78571084	78571084	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:78571084C>T	ENST00000397909.2	+	27	5461	c.5288C>T	c.(5287-5289)tCt>tTt	p.S1763F	NAV3_ENST00000536525.2_Missense_Mutation_p.S1763F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1763F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1586F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1763						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCTCACAATCTGCTTCAGCG	0.418										HNSCC(70;0.22)																																							0													106.0	96.0	99.0					12																	78571084		1887	4128	6015	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5288C>T	12.37:g.78571084C>T	ENSP00000381007:p.Ser1763Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1763F	ENST00000397909.2	37	c.5288		12	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422301	0.62622	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.95	5.95	0.96441	.	0.000000	0.34531	U	0.003898	D	0.97331	0.9127	L	0.59436	1.845	0.80722	D	1	D;D;P;D	0.89917	1.0;0.997;0.533;1.0	D;D;B;D	0.87578	0.99;0.994;0.185;0.998	D	0.97478	1.0045	10	0.87932	D	0	-12.9227	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1763;1586;1763;1763	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1763;1763;1763;1586;377;385	ENSP00000446132:S1763F;ENSP00000381007:S1763F;ENSP00000228327:S1763F;ENSP00000266692:S1586F;ENSP00000448303:S385F	ENSP00000228327:S1763F	S	+	2	0	NAV3	77095215	1.000000	0.71417	0.300000	0.25030	0.641000	0.38312	7.575000	0.82447	2.824000	0.97209	0.655000	0.94253	TCT	NAV3	-	NULL		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78571084	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	T
NBN	4683	genome.wustl.edu	37	8	90990479	90990479	+	Missense_Mutation	SNP	C	C	T	rs1805794	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:90990479C>T	ENST00000265433.3	-	5	707	c.553G>A	c.(553-555)Gag>Aag	p.E185K	NBN_ENST00000409330.1_Missense_Mutation_p.E103K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	185	Mediates interaction with SP100. {ECO:0000250}.		E -> Q (in dbSNP:rs1805794). {ECO:0000269|PubMed:14684699, ECO:0000269|PubMed:14688016, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9590180, ECO:0000269|PubMed:9590181, ECO:0000269|Ref.7}.		blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTTGGACTCAACTGCTTTC	0.299								Homologous recombination																																									0			GRCh37	CM034886	NBN	M	rs1805794						87.0	86.0	87.0					8																	90990479		2203	4300	6503	SO:0001583	missense	4683			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.553G>A	8.37:g.90990479C>T	ENSP00000265433:p.Glu185Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.E185K	ENST00000265433.3	37	c.553	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733709	0.89482	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000517772	T;T;T	0.71341	0.32;0.36;-0.56	5.96	3.08	0.35506	.	0.222293	0.47093	N	0.000243	T	0.57080	0.2029	N	0.22421	0.69	0.20638	N	0.999879	B	0.09022	0.002	B	0.04013	0.001	T	0.47058	-0.9146	10	0.51188	T	0.08	-2.2013	13.9393	0.64046	0.0:0.4497:0.4384:0.1119	.	185	O60934	NBN_HUMAN	K	185;103;185;103	ENSP00000265433:E185K;ENSP00000386924:E103K;ENSP00000428717:E103K	ENSP00000265433:E185K	E	-	1	0	NBN	91059655	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.133000	0.42093	0.091000	0.17302	-0.120000	0.15030	GAG	NBN	-	pirsf_Nibrin_met		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	C	NM_001024688		90990479	-1	no_errors	ENST00000265433	ensembl	human	known	70_37	missense	SNP	1.000	T
RP11-640M9.2	0	genome.wustl.edu	37	1	144607025	144607025	+	RNA	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:144607025G>A	ENST00000419820.1	+	0	3056																											AAAGAAACCagagtcacagaa	0.443																																																	0																																												728841																															1.37:g.144607025G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000419820.1	37	NULL		1																																																																																			NBPF8	-	-		0.443	RP11-640M9.2-011	KNOWN	basic	processed_transcript	NBPF8	HGNC	pseudogene	OTTHUMT00000038365.1	G			144607025	+1	no_errors	ENST00000421407	ensembl	human	known	70_37	rna	SNP	0.281	A
NCAPD2	9918	genome.wustl.edu	37	12	6626091	6626091	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:6626091G>A	ENST00000315579.5	+	10	1884	c.1085G>A	c.(1084-1086)aGa>aAa	p.R362K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R317K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	362	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CGAGACACCAGAGACCAGTTC	0.527																																																	0													151.0	136.0	141.0					12																	6626091		2203	4300	6503	SO:0001583	missense	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1085G>A	12.37:g.6626091G>A	ENSP00000325017:p.Arg362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R362K	ENST00000315579.5	37	c.1085	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.608572	0.96626	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08634	3.07;3.07;3.07	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.998;0.999;0.985	T	0.00455	-1.1729	10	0.29301	T	0.29	-14.6311	19.2601	0.93964	0.0:0.0:1.0:0.0	.	317;323;362	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	K	362;234;317;234	ENSP00000325017:R362K;ENSP00000371895:R234K;ENSP00000444417:R317K	ENSP00000325017:R362K	R	+	2	0	NCAPD2	6496352	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.933000	0.92911	2.542000	0.85734	0.462000	0.41574	AGA	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.527	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	G	NM_014865		6626091	+1	no_errors	ENST00000315579	ensembl	human	known	70_37	missense	SNP	1.000	A
NCAPD3	23310	genome.wustl.edu	37	11	134079287	134079287	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:134079287G>A	ENST00000534548.2	-	5	716	c.652C>T	c.(652-654)Cac>Tac	p.H218Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	218					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTAAAAGGTGAAAGATGGCA	0.333																																																	0													47.0	50.0	49.0					11																	134079287		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.652C>T	11.37:g.134079287G>A	ENSP00000433681:p.His218Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.H218Y	ENST00000534548.2	37	c.652	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894060	0.02491	.	.	ENSG00000151503	ENST00000534548	T	0.63913	-0.07	5.64	0.0665	0.14362	Armadillo-type fold (1);	0.736617	0.13906	N	0.354565	T	0.35158	0.0922	N	0.22421	0.69	0.09310	N	0.999999	B	0.26147	0.143	B	0.21917	0.037	T	0.27331	-1.0077	10	0.02654	T	1	-0.5497	4.3587	0.11192	0.1994:0.1072:0.5781:0.1152	.	218	P42695	CNDD3_HUMAN	Y	218	ENSP00000433681:H218Y	ENSP00000431612:H218Y	H	-	1	0	NCAPD3	133584497	0.020000	0.18652	0.034000	0.17996	0.909000	0.53808	-0.386000	0.07370	0.133000	0.18654	0.650000	0.86243	CAC	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3		0.333	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	G	NM_015261		134079287	-1	no_errors	ENST00000534548	ensembl	human	known	70_37	missense	SNP	0.033	A
NCDN	23154	genome.wustl.edu	37	1	36028072	36028072	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:36028072C>T	ENST00000373243.2	+	4	1606	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	NCDN_ENST00000373253.3_Missense_Mutation_p.S391L|NCDN_ENST00000356090.4_Missense_Mutation_p.S408L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	408					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGGAGACCTCATCCTTGCGT	0.622																																																	0													156.0	133.0	141.0					1																	36028072		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1223C>T	1.37:g.36028072C>T	ENSP00000362340:p.Ser408Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.S408L	ENST00000373243.2	37	c.1223	CCDS392.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.535795|4.535795	0.85812|0.85812	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000423723|ENST00000373253;ENST00000356090;ENST00000373243	.|T;T;T	.|0.69561	.|-0.41;-0.41;-0.41	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|0.215569	.|0.40728	.|N	.|0.001021	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999995|0.999995	.|P	.|0.52170	.|0.951	.|P	.|0.55112	.|0.769	T|T	0.74362|0.74362	-0.3690|-0.3690	5|10	.|0.72032	.|D	.|0.01	-0.4759|-0.4759	15.1754|15.1754	0.72907|0.72907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|408	.|Q9UBB6	.|NCDN_HUMAN	Y|L	2|391;408;408	.|ENSP00000362350:S391L;ENSP00000348394:S408L;ENSP00000362340:S408L	.|ENSP00000348394:S408L	H|S	+|+	1|2	0|0	NCDN|NCDN	35800659|35800659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.042000|5.042000	0.64202|0.64202	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	CAT|TCA	NCDN	-	NULL		0.622	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	C	NM_014284		36028072	+1	no_errors	ENST00000356090	ensembl	human	known	70_37	missense	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48701446	48701446	+	5'Flank	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48701446G>A	ENST00000164024.4	-	0	0				RP11-148G20.1_ENST00000421275.1_RNA|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S696F|CELSR3_ENST00000544264.1_5'Flank	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGAAGCCCAGGAAGAGGTCAG	0.657											OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													9.0	9.0	9.0					3																	48701446		869	1979	2848	SO:0001631	upstream_gene_variant	51517			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544		3.37:g.48701446G>A	Exception_encountered	Somatic	956	WXS	Illumina HiSeq	Phase_IV	O75092	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S696F	ENST00000164024.4	37	c.2087	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115284	0.37339	.	.	ENSG00000213672	ENST00000341520	T	0.50277	0.75	4.18	0.138	0.14793	.	0.473832	0.21437	U	0.074557	T	0.40498	0.1119	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35773	-0.9775	7	0.87932	D	0	.	3.746	0.08548	0.3327:0.186:0.4813:0.0	.	.	.	.	F	696	ENSP00000342621:S696F	ENSP00000342621:S696F	S	-	2	0	NCKIPSD	48676450	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.153000	0.16323	-0.101000	0.12219	-0.882000	0.02950	TCC	NCKIPSD	-	NULL		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48701446	-1	no_errors	ENST00000341520	ensembl	human	known	70_37	missense	SNP	0.004	A
NCOA4	8031	genome.wustl.edu	37	10	51585289	51585289	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:51585289C>T	ENST00000443446.1	+	8	1617	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	NCOA4_ENST00000452682.1_Missense_Mutation_p.P479L|NCOA4_ENST00000438493.1_Missense_Mutation_p.P479L|NCOA4_ENST00000430396.2_Missense_Mutation_p.P363L|NCOA4_ENST00000344348.6_Missense_Mutation_p.P463L|NCOA4_ENST00000374087.4_Missense_Mutation_p.P463L|NCOA4_ENST00000374082.1_Missense_Mutation_p.P463L|NCOA4_ENST00000414907.2_Missense_Mutation_p.P297L	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	463					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCTCTGTCCTAGAAAAGAA	0.428			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													124.0	137.0	133.0					10																	51585289		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1388C>T	10.37:g.51585289C>T	ENSP00000390713:p.Pro463Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.P479L	ENST00000443446.1	37	c.1436	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389103	0.61956	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.6	5.6	0.85130	.	0.053283	0.85682	D	0.000000	T	0.43456	0.1248	M	0.66939	2.045	0.40622	D	0.981771	D;P;D;B	0.56035	0.974;0.954;0.974;0.307	P;P;P;B	0.50860	0.652;0.476;0.476;0.097	T	0.33727	-0.9857	9	.	.	.	-8.194	15.1301	0.72517	0.0:0.8591:0.1409:0.0	.	363;479;479;463	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	L	479;479;363;463;297;463;463;463	ENSP00000405146:P479L;ENSP00000395465:P479L;ENSP00000393053:P363L;ENSP00000363200:P463L;ENSP00000411018:P297L;ENSP00000344552:P463L;ENSP00000363195:P463L;ENSP00000390713:P463L	.	P	+	2	0	NCOA4	51255295	0.704000	0.27836	1.000000	0.80357	0.799000	0.45148	1.849000	0.39318	2.647000	0.89833	0.650000	0.86243	CCT	NCOA4	-	NULL		0.428	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	C	NM_005437		51585289	+1	no_errors	ENST00000452682	ensembl	human	known	70_37	missense	SNP	0.847	T
NEO1	4756	genome.wustl.edu	37	15	73408941	73408941	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:73408941C>T	ENST00000339362.5	+	3	638	c.191C>T	c.(190-192)tCa>tTa	p.S64L	NEO1_ENST00000261908.6_Missense_Mutation_p.S64L|NEO1_ENST00000558964.1_Missense_Mutation_p.S64L|NEO1_ENST00000560262.1_Missense_Mutation_p.S64L			Q92859	NEO1_HUMAN	neogenin 1	64	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACACTCTCAGTTAGAGGC	0.353																																																	0													70.0	74.0	73.0					15																	73408941		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.191C>T	15.37:g.73408941C>T	ENSP00000341198:p.Ser64Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S64L	ENST00000339362.5	37	c.191	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190789	0.58017	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.37058	1.22;1.22	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.179529	0.49305	D	0.000144	T	0.21468	0.0517	N	0.01454	-0.855	0.49915	D	0.99983	B;B;B	0.32365	0.367;0.027;0.205	B;B;B	0.37550	0.253;0.029;0.102	T	0.29701	-1.0003	10	0.34782	T	0.22	-18.4973	20.3495	0.98807	0.0:1.0:0.0:0.0	.	64;64;64	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	L	64	ENSP00000341198:S64L;ENSP00000261908:S64L	ENSP00000261908:S64L	S	+	2	0	NEO1	71195994	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	4.452000	0.60054	2.814000	0.96858	0.591000	0.81541	TCA	NEO1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.353	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	C	NM_002499		73408941	+1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	0.999	T
NETO1	81832	genome.wustl.edu	37	18	70526220	70526220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:70526220G>A	ENST00000327305.6	-	4	967	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NETO1_ENST00000397929.1_Nonsense_Mutation_p.R103*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.R103*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.R104*|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	104	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGTCCATCTCGAACTTCAATA	0.378																																																	0													92.0	91.0	91.0					18																	70526220		2203	4300	6503	SO:0001587	stop_gained	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.310C>T	18.37:g.70526220G>A	ENSP00000313088:p.Arg104*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W85|Q8ND78|Q8TDF4	Nonsense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R104*	ENST00000327305.6	37	c.310	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.621459	0.98888	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6127	13.6094	0.62068	0.0:0.0:0.7282:0.2718	.	.	.	.	X	104;103;103	.	ENSP00000299430:R103X	R	-	1	2	NETO1	68677200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.824000	0.55723	2.672000	0.90937	0.655000	0.94253	CGA	NETO1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.378	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	G	NM_138999		70526220	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NFATC2	4773	genome.wustl.edu	37	20	50158912	50158912	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:50158912C>T	ENST00000396009.3	-	1	346	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000371564.3_Missense_Mutation_p.E43K|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	43					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACCGACCTTCGTTCGGATTC	0.672																																																	0													22.0	25.0	24.0					20																	50158912		2201	4299	6500	SO:0001583	missense	4773			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.127G>A	20.37:g.50158912C>T	ENSP00000379330:p.Glu43Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E43K	ENST00000396009.3	37	c.127	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392653	0.62066	.	.	ENSG00000101096	ENST00000371564;ENST00000396009	T;T	0.15017	2.46;2.46	4.18	4.18	0.49190	.	0.238872	0.33144	N	0.005230	T	0.09686	0.0238	N	0.22421	0.69	0.80722	D	1	P;P	0.47910	0.902;0.813	B;B	0.33254	0.16;0.083	T	0.20338	-1.0278	10	0.32370	T	0.25	.	13.5813	0.61905	0.0:1.0:0.0:0.0	.	43;43	Q13469;B5B2N8	NFAC2_HUMAN;.	K	43	ENSP00000360619:E43K;ENSP00000379330:E43K	ENSP00000360619:E43K	E	-	1	0	NFATC2	49592319	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	1.653000	0.37323	2.020000	0.59435	0.455000	0.32223	GAA	NFATC2	-	NULL		0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	C	NM_012340		50158912	-1	no_errors	ENST00000396009	ensembl	human	known	70_37	missense	SNP	1.000	T
NFATC4	4776	genome.wustl.edu	37	14	24845656	24845656	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24845656C>T	ENST00000250373.4	+	9	2354	c.2213C>T	c.(2212-2214)tCa>tTa	p.S738L	NFATC4_ENST00000555590.1_Missense_Mutation_p.S751L|NFATC4_ENST00000556169.1_Missense_Mutation_p.S726L|NFATC4_ENST00000555802.1_Missense_Mutation_p.S26L|NFATC4_ENST00000554966.1_Missense_Mutation_p.S751L|NFATC4_ENST00000556279.1_Missense_Mutation_p.S770L|NFATC4_ENST00000556759.1_Missense_Mutation_p.S273L|NFATC4_ENST00000557767.1_Missense_Mutation_p.S26L|NFATC4_ENST00000553469.1_Missense_Mutation_p.S770L|NFATC4_ENST00000553708.1_Missense_Mutation_p.S738L|NFATC4_ENST00000413692.2_Missense_Mutation_p.S801L|NFATC4_ENST00000554344.1_Missense_Mutation_p.S668L|NFATC4_ENST00000555167.1_Missense_Mutation_p.S273L|NFATC4_ENST00000557451.1_Missense_Mutation_p.S668L|NFATC4_ENST00000554661.1_Missense_Mutation_p.S668L|NFATC4_ENST00000539237.2_Missense_Mutation_p.S770L|NFATC4_ENST00000555453.1_Missense_Mutation_p.S726L|NFATC4_ENST00000554473.1_Missense_Mutation_p.S273L|NFATC4_ENST00000555393.1_Missense_Mutation_p.S26L|NFATC4_ENST00000553879.1_Missense_Mutation_p.S668L|NFATC4_ENST00000422617.3_Missense_Mutation_p.S726L|NFATC4_ENST00000554050.1_Missense_Mutation_p.S738L|NFATC4_ENST00000424781.2_Missense_Mutation_p.S751L|NFATC4_ENST00000554591.1_Missense_Mutation_p.S801L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	738	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTTACCTATCAGAAGGCTTC	0.617																																																	0													57.0	61.0	60.0					14																	24845656		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2213C>T	14.37:g.24845656C>T	ENSP00000250373:p.Ser738Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S801L	ENST00000250373.4	37	c.2402	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718302	0.68844	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	3.19;3.24;3.24;3.25;3.23;3.22;3.23;3.24;3.25;3.24;3.21;2.93;2.93;2.94;2.92;2.91;2.9;2.91;1.53;1.52;1.5;0.45;0.6	5.13	5.13	0.70059	.	0.000000	0.48286	D	0.000200	T	0.49406	0.1555	N	0.19112	0.55	0.31060	N	0.714259	P;P;P;P;P;P;P;D;D;P;P;D;P	0.56035	0.936;0.936;0.936;0.936;0.936;0.936;0.936;0.974;0.974;0.936;0.936;0.974;0.895	P;P;P;P;P;P;P;P;P;P;P;P;P	0.56343	0.636;0.725;0.725;0.725;0.725;0.725;0.725;0.796;0.796;0.725;0.725;0.796;0.535	T	0.44329	-0.9335	10	0.17369	T	0.5	-5.4644	13.9397	0.64048	0.0:1.0:0.0:0.0	.	726;726;770;770;751;751;751;801;801;726;770;801;738	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	L	801;801;751;751;751;770;770;770;738;738;738;668;668;668;726;668;726;726;273;273;273;26;26;26	ENSP00000388910:S801L;ENSP00000452039:S801L;ENSP00000451224:S751L;ENSP00000450644:S751L;ENSP00000388668:S751L;ENSP00000439350:S770L;ENSP00000452270:S770L;ENSP00000451502:S770L;ENSP00000451151:S738L;ENSP00000250373:S738L;ENSP00000450590:S738L;ENSP00000452349:S668L;ENSP00000450469:S668L;ENSP00000450733:S668L;ENSP00000451454:S726L;ENSP00000451284:S668L;ENSP00000396788:S726L;ENSP00000450686:S726L;ENSP00000450810:S273L;ENSP00000451183:S273L;ENSP00000451395:S273L;ENSP00000451801:S26L;ENSP00000451590:S26L	ENSP00000250373:S738L	S	+	2	0	NFATC4	23915496	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.476000	0.45171	2.667000	0.90743	0.561000	0.74099	TCA	NFATC4	-	NULL		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	C	NM_004554		24845656	+1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>T	2.37:g.178098960C>A	ENSP00000380252:p.Asp29Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29Y	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014623	0.75161	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Y	13;29;13;13;13;13;13	ENSP00000380253:D13Y;ENSP00000380252:D29Y;ENSP00000411575:D13Y;ENSP00000391590:D13Y;ENSP00000400073:D13Y;ENSP00000412191:D13Y;ENSP00000410015:D13Y	ENSP00000380252:D29Y	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	A
NHLH2	4808	genome.wustl.edu	37	1	116380715	116380715	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:116380715G>T	ENST00000369506.1	-	1	5823	c.279C>A	c.(277-279)ttC>ttA	p.F93L	NHLH2_ENST00000320238.3_Missense_Mutation_p.F93L			Q02577	HEN2_HUMAN	nescient helix loop helix 2	93	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGCCAAGTTGAAGGCTTCCA	0.682																																																	0													21.0	25.0	23.0					1																	116380715		2202	4300	6502	SO:0001583	missense	4808				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.279C>A	1.37:g.116380715G>T	ENSP00000358519:p.Phe93Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1P6	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F93L	ENST00000369506.1	37	c.279	CCDS885.1	1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865160	0.71949	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D;D	0.97186	-4.28;-4.28;-4.28	4.48	3.57	0.40892	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	N	0.02412	-0.56	0.58432	D	0.999998	D	0.59357	0.985	D	0.72338	0.977	D	0.87526	0.2449	10	0.02654	T	1	-19.922	11.9065	0.52715	0.0864:0.0:0.9136:0.0	.	93	Q02577	HEN2_HUMAN	L	93	ENSP00000322087:F93L;ENSP00000358519:F93L;ENSP00000405062:F93L	ENSP00000322087:F93L	F	-	3	2	NHLH2	116182238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.789000	0.55454	0.886000	0.36113	0.555000	0.69702	TTC	NHLH2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.682	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NHLH2	HGNC	protein_coding	OTTHUMT00000033090.1	G	NM_005599		116380715	-1	no_errors	ENST00000320238	ensembl	human	known	70_37	missense	SNP	1.000	T
NKTR	4820	genome.wustl.edu	37	3	42662975	42662975	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:42662975G>A	ENST00000232978.8	+	6	529	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	114	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATGGCAAATCGAGGGAAACAT	0.363																																																	0													76.0	73.0	74.0					3																	42662975		2203	4299	6502	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.341G>A	3.37:g.42662975G>A	ENSP00000232978:p.Arg114Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R114Q	ENST00000232978.8	37	c.341	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448436	0.84101	.	.	ENSG00000114857	ENST00000232978	T	0.21932	1.98	5.11	5.11	0.69529	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.48007	-0.9072	10	0.87932	D	0	-5.4631	18.8785	0.92347	0.0:0.0:1.0:0.0	.	114	P30414	NKTR_HUMAN	Q	114	ENSP00000232978:R114Q	ENSP00000232978:R114Q	R	+	2	0	NKTR	42637979	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.535000	0.85469	0.557000	0.71058	CGA	NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.363	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42662975	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	A
NLRP1	22861	genome.wustl.edu	37	17	5440179	5440179	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5440179G>A	ENST00000572272.1	-	8	2951	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	NLRP1_ENST00000269280.4_Silent_p.F984F|NLRP1_ENST00000262467.5_Silent_p.F984F|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000345221.3_Silent_p.F984F|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	984					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACCGTCTGCTGAAGATGAGCA	0.587																																																	0													77.0	63.0	68.0					17																	5440179		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2952C>T	17.37:g.5440179G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.F984	ENST00000572272.1	37	c.2952	CCDS42246.1	17																																																																																			NLRP1	-	NULL		0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5440179	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	silent	SNP	0.000	A
NLRP9	338321	genome.wustl.edu	37	19	56223837	56223837	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:56223837C>G	ENST00000332836.2	-	7	2648	c.2621G>C	c.(2620-2622)aGa>aCa	p.R874T	CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	874						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R874K(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATAACTGTCTGACACCAGT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											102.0	97.0	98.0					19																	56223837		2201	4294	6495	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2621G>C	19.37:g.56223837C>G	ENSP00000331857:p.Arg874Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R874T	ENST00000332836.2	37	c.2621	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950618	0.34377	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.45276	0.9	4.0	-2.2	0.06994	.	.	.	.	.	T	0.33323	0.0859	L	0.41356	1.27	0.09310	N	1	B	0.28258	0.205	B	0.32928	0.155	T	0.34900	-0.9810	9	0.51188	T	0.08	.	9.351	0.38138	0.0:0.5379:0.0:0.4621	.	874	Q7RTR0	NALP9_HUMAN	T	874	ENSP00000331857:R874T	ENSP00000331857:R874T	R	-	2	0	NLRP9	60915649	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.004000	0.12878	-0.672000	0.05266	-0.356000	0.07607	AGA	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56223837	-1	no_errors	ENST00000332836	ensembl	human	known	70_37	missense	SNP	0.000	G
NLRP5	126206	genome.wustl.edu	37	19	56572782	56572782	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:56572782C>T	ENST00000390649.3	+	15	3491	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1164					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P1164H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGCAGTACCCTGTGCAAATA	0.502																																																	1	Substitution - Missense(1)	lung(1)											94.0	93.0	93.0					19																	56572782		1981	4160	6141	SO:0001583	missense	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3491C>T	19.37:g.56572782C>T	ENSP00000375063:p.Pro1164Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P1164L	ENST00000390649.3	37	c.3491	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395468	0.42512	.	.	ENSG00000171487	ENST00000390649	T	0.53640	0.61	3.33	2.22	0.28083	.	.	.	.	.	T	0.37972	0.1023	L	0.50333	1.59	0.09310	N	1	P	0.45474	0.859	B	0.42593	0.392	T	0.13656	-1.0501	9	0.12103	T	0.63	.	7.5253	0.27652	0.2557:0.7443:0.0:0.0	.	1164	P59047	NALP5_HUMAN	L	1164	ENSP00000375063:P1164L	ENSP00000375063:P1164L	P	+	2	0	NLRP5	61264594	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.086000	0.14935	0.896000	0.36366	0.655000	0.94253	CCT	NLRP5	-	NULL		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	C	NM_153447		56572782	+1	no_errors	ENST00000390649	ensembl	human	known	70_37	missense	SNP	0.001	T
NME8	51314	genome.wustl.edu	37	7	37936490	37936490	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:37936490G>A	ENST00000199447.4	+	17	1935	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.M521I	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	521	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTATGGTCATGATTCTGACCA	0.488																																																	0													118.0	113.0	115.0					7																	37936490		2203	4300	6503	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1563G>A	7.37:g.37936490G>A	ENSP00000199447:p.Met521Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.M521I	ENST00000199447.4	37	c.1563	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926980	0.34002	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.47528	0.84;0.84	5.54	5.54	0.83059	.	0.192784	0.37012	N	0.002281	T	0.70124	0.3188	M	0.86343	2.81	0.51233	D	0.999915	P	0.40834	0.73	P	0.53518	0.728	T	0.72527	-0.4266	10	0.56958	D	0.05	-17.6426	18.6116	0.91286	0.0:0.0:1.0:0.0	.	521	Q8N427	TXND3_HUMAN	I	521	ENSP00000199447:M521I;ENSP00000397063:M521I	ENSP00000199447:M521I	M	+	3	0	TXNDC3	37903015	1.000000	0.71417	0.183000	0.23137	0.202000	0.24057	4.665000	0.61547	2.779000	0.95612	0.655000	0.94253	ATG	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	G	NM_016616		37936490	+1	no_errors	ENST00000199447	ensembl	human	known	70_37	missense	SNP	0.839	A
NMT1	4836	genome.wustl.edu	37	17	43138707	43138707	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:43138707G>A	ENST00000592782.1	+	2	141	c.10G>A	c.(10-12)Gag>Aag	p.E4K	DCAKD_ENST00000342350.5_5'Flank|DCAKD_ENST00000310604.4_5'Flank|NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.E4K			P30419	NMT1_HUMAN	N-myristoyltransferase 1	4					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GATGGCGGACGAGAGTGAGAC	0.592																																																	0													40.0	40.0	40.0					17																	43138707		2203	4300	6503	SO:0001583	missense	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.10G>A	17.37:g.43138707G>A	ENSP00000468424:p.Glu4Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E4K	ENST00000592782.1	37	c.10	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576215	0.65878	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.50277	0.88;0.75	5.93	4.97	0.65823	.	0.104471	0.64402	D	0.000005	T	0.32102	0.0818	N	0.19112	0.55	0.47308	D	0.999381	B	0.24426	0.103	B	0.17098	0.017	T	0.13683	-1.0500	10	0.56958	D	0.05	-12.0224	10.365	0.44017	0.0708:0.1344:0.7948:0.0	.	4	P30419	NMT1_HUMAN	K	4	ENSP00000258960:E4K;ENSP00000439263:E4K	ENSP00000258960:E4K	E	+	1	0	NMT1	40494233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.470000	0.60175	1.529000	0.49120	0.655000	0.94253	GAG	NMT1	-	NULL		0.592	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	G	NM_021079		43138707	+1	no_errors	ENST00000258960	ensembl	human	known	70_37	missense	SNP	1.000	A
NOL6	65083	genome.wustl.edu	37	9	33465793	33465793	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:33465793C>T	ENST00000379471.2	-	19	2554	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T	NOL6_ENST00000455041.2_Missense_Mutation_p.A771T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	823					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGGAGGGAGGCAGCTGTGTCC	0.602																																																	0													76.0	60.0	65.0					9																	33465793		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2467G>A	9.37:g.33465793C>T	ENSP00000368784:p.Ala823Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.A823T	ENST00000379471.2	37	c.2467		9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087332	0.76642	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.43688	0.94;0.94;0.94	5.94	5.94	0.96194	.	0.101987	0.64402	D	0.000003	T	0.50480	0.1618	M	0.71036	2.16	0.53005	D	0.999964	P;P;P;P	0.49961	0.93;0.914;0.914;0.93	P;P;B;B	0.46172	0.506;0.497;0.372;0.425	T	0.41980	-0.9478	10	0.15499	T	0.54	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	771;820;823;823	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	T	823;823;379;823;771	ENSP00000297990:A823T;ENSP00000368784:A823T;ENSP00000395915:A771T	ENSP00000297990:A823T	A	-	1	0	NOL6	33455793	1.000000	0.71417	0.952000	0.39060	0.291000	0.27294	7.487000	0.81328	2.816000	0.96949	0.563000	0.77884	GCC	NOL6	-	pfam_Nrap		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33465793	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	1.000	T
NOS3	4846	genome.wustl.edu	37	7	150690919	150690919	+	Missense_Mutation	SNP	G	G	A	rs547845670		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:150690919G>A	ENST00000484524.1	+	1	28	c.28G>A	c.(28-30)Gag>Aag	p.E10K	NOS3_ENST00000297494.3_Missense_Mutation_p.E10K|NOS3_ENST00000467517.1_Missense_Mutation_p.E10K|NOS3_ENST00000461406.1_Intron	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCCCAGGAGCCTGGGCC	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		13835	0.001		0.0	False		,,,				2504	0.0																0													13.0	18.0	16.0					7																	150690919		2177	4251	6428	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.28G>A	7.37:g.150690919G>A	ENSP00000420215:p.Glu10Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E10K	ENST00000484524.1	37	c.28	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	g	16.75	3.210333	0.58343	.	.	ENSG00000164867	ENST00000297494;ENST00000484576;ENST00000484524;ENST00000467517	T;T;T	0.15256	4.64;2.86;2.44	5.17	5.17	0.71159	.	0.150994	0.30686	N	0.009099	T	0.09024	0.0223	N	0.08118	0	0.40149	D	0.976921	P;B;B;B	0.47762	0.9;0.155;0.155;0.155	B;B;B;B	0.36464	0.225;0.034;0.034;0.023	T	0.15636	-1.0430	10	0.66056	D	0.02	-6.4922	14.2007	0.65703	0.0:0.0:1.0:0.0	.	10;10;10;10	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	K	10	ENSP00000297494:E10K;ENSP00000420215:E10K;ENSP00000420551:E10K	ENSP00000297494:E10K	E	+	1	0	NOS3	150321852	1.000000	0.71417	0.999000	0.59377	0.363000	0.29612	5.347000	0.65998	2.422000	0.82143	0.579000	0.79373	GAG	NOS3	-	pirsf_NOS_met		0.706	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	G	NM_000603		150690919	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	A
NOX5	79400	genome.wustl.edu	37	15	69335090	69335090	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:69335090G>C	ENST00000388866.3	+	10	1633	c.1592G>C	c.(1591-1593)gGt>gCt	p.G531A	NOX5_ENST00000448182.3_Missense_Mutation_p.G485A|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Missense_Mutation_p.G513A|NOX5_ENST00000530406.2_Missense_Mutation_p.G503A|NOX5_ENST00000455873.3_Missense_Mutation_p.G496A	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	531	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGGCCGTGGTTCTAAGAGG	0.542																																																	0													145.0	120.0	128.0					15																	69335090		2200	4298	6498	SO:0001583	missense	79400			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1592G>C	15.37:g.69335090G>C	ENSP00000373518:p.Gly531Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G531A	ENST00000388866.3	37	c.1592	CCDS32276.2	15	.	.	.	.	.	.	.	.	.	.	G	1.776	-0.483071	0.04383	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94417	-2.85;-3.42;-2.85	3.42	-0.796	0.10912	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	1.364450	0.04693	N	0.414436	D	0.92864	0.7730	M	0.74467	2.265	0.09310	N	1	B;B;B	0.28128	0.167;0.201;0.167	B;B;B	0.31946	0.124;0.138;0.124	T	0.78486	-0.2185	10	0.22706	T	0.39	-0.0626	6.0583	0.19824	0.541:0.0:0.459:0.0	.	496;531;503	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	A	496;513;531;503	ENSP00000416828:G496A;ENSP00000373518:G531A;ENSP00000432440:G503A	ENSP00000373518:G531A	G	+	2	0	NOX5	67122144	0.003000	0.15002	0.006000	0.13384	0.251000	0.25915	0.220000	0.17660	-0.268000	0.09312	0.313000	0.20887	GGT	NOX5	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl		0.542	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	G	NM_024505		69335090	+1	no_errors	ENST00000388866	ensembl	human	known	70_37	missense	SNP	0.009	C
NRL	4901	genome.wustl.edu	37	14	24550456	24550456	+	Missense_Mutation	SNP	G	G	C	rs201358563	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24550456G>C	ENST00000561028.1	-	3	1022	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	NRL_ENST00000397002.2_Missense_Mutation_p.L235V|NRL_ENST00000396997.1_Missense_Mutation_p.L235V|NRL_ENST00000560550.1_Missense_Mutation_p.L96V|NRL_ENST00000396995.1_Missense_Mutation_p.L96V			P54845	NRL_HUMAN	neural retina leucine zipper	235					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CAGAGGAAGAGGTGGGAGGGG	0.701																																																	0													4.0	5.0	4.0					14																	24550456		2018	4019	6037	SO:0001583	missense	4901				CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.703C>G	14.37:g.24550456G>C	ENSP00000454062:p.Leu235Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX14|Q53XD0	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L235V	ENST00000561028.1	37	c.703	CCDS9608.1	14	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568140	0.28003	.	.	ENSG00000129535	ENST00000397002;ENST00000396997;ENST00000396995	D;D;D	0.97710	-4.5;-4.5;-1.71	5.0	0.37	0.16160	.	0.469026	0.18274	N	0.146224	D	0.93612	0.7960	L	0.29908	0.895	0.25117	N	0.990676	B	0.12013	0.005	B	0.16289	0.015	D	0.88036	0.2778	10	0.72032	D	0.01	-1.4189	8.7165	0.34414	0.7208:0.0:0.2792:0.0	.	235	P54845	NRL_HUMAN	V	235;235;96	ENSP00000380197:L235V;ENSP00000380193:L235V;ENSP00000380191:L96V	ENSP00000337023:L235V	L	-	1	0	NRL	23620296	0.418000	0.25440	0.990000	0.47175	0.023000	0.10783	1.303000	0.33470	0.126000	0.18424	0.407000	0.27541	CTC	NRL	-	NULL		0.701	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRL	HGNC	protein_coding	OTTHUMT00000415595.1	G			24550456	-1	no_errors	ENST00000396997	ensembl	human	known	70_37	missense	SNP	0.978	C
NSD1	64324	genome.wustl.edu	37	5	176721266	176721266	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:176721266C>T	ENST00000439151.2	+	23	6942	c.6897C>T	c.(6895-6897)ctC>ctT	p.L2299L	NSD1_ENST00000354179.4_Silent_p.L2030L|NSD1_ENST00000361032.4_Silent_p.L2196L|NSD1_ENST00000347982.4_Silent_p.L2030L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2299	Pro-rich.				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)		TCAGAGACCTCGCTGGGTCAG	0.557			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													59.0	62.0	61.0					5																	176721266		2203	4300	6503	SO:0001819	synonymous_variant	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.6897C>T	5.37:g.176721266C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Silent	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.L2299	ENST00000439151.2	37	c.6897	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.557	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176721266	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.959	T
NSFL1C	55968	genome.wustl.edu	37	20	1434905	1434905	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:1434905C>T	ENST00000216879.4	-	5	1357	c.490G>A	c.(490-492)Gag>Aag	p.E164K	NSFL1C_ENST00000350991.4_Missense_Mutation_p.E166K|NSFL1C_ENST00000353088.2_Intron|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E166K|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E53K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	164						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TAGGCAGACTCTTCCTCTGGT	0.512																																																	0													100.0	80.0	87.0					20																	1434905		2203	4300	6503	SO:0001583	missense	55968			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.490G>A	20.37:g.1434905C>T	ENSP00000216879:p.Glu164Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX	p.E166K	ENST00000216879.4	37	c.496	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944593	0.73672	.	.	ENSG00000088833	ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T	0.45668	0.89;0.9;0.9;0.89	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.971	T	0.47674	-0.9099	10	0.14656	T	0.56	-19.2017	17.0106	0.86405	0.0:1.0:0.0:0.0	.	53;164	Q9UNZ2-6;Q9UNZ2	.;NSF1C_HUMAN	K	166;164;53;166	ENSP00000418529:E166K;ENSP00000216879:E164K;ENSP00000371074:E53K;ENSP00000202584:E166K	ENSP00000216879:E164K	E	-	1	0	NSFL1C	1382905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.936000	0.63506	2.756000	0.94617	0.563000	0.77884	GAG	NSFL1C	-	NULL		0.512	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	C	NM_016143		1434905	-1	no_errors	ENST00000350991	ensembl	human	known	70_37	missense	SNP	1.000	T
NSFL1C	55968	genome.wustl.edu	37	20	1434911	1434911	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:1434911C>T	ENST00000216879.4	-	5	1351	c.484G>A	c.(484-486)Gag>Aag	p.E162K	NSFL1C_ENST00000350991.4_Missense_Mutation_p.E164K|NSFL1C_ENST00000353088.2_Intron|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E164K|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E51K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	162						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GACTCTTCCTCTGGTGCTGCC	0.522																																																	0													96.0	78.0	84.0					20																	1434911		2203	4300	6503	SO:0001583	missense	55968			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.484G>A	20.37:g.1434911C>T	ENSP00000216879:p.Glu162Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX	p.E164K	ENST00000216879.4	37	c.490	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035630	0.54896	.	.	ENSG00000088833	ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T	0.46451	0.87;0.88;0.89;0.88	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	L	0.35414	1.06	0.58432	D	0.999994	P;P	0.51057	0.932;0.941	P;P	0.49332	0.48;0.607	T	0.04885	-1.0920	10	0.10636	T	0.68	-19.7042	17.0106	0.86405	0.0:1.0:0.0:0.0	.	51;162	Q9UNZ2-6;Q9UNZ2	.;NSF1C_HUMAN	K	164;162;51;164	ENSP00000418529:E164K;ENSP00000216879:E162K;ENSP00000371074:E51K;ENSP00000202584:E164K	ENSP00000216879:E162K	E	-	1	0	NSFL1C	1382911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.009000	0.63998	2.756000	0.94617	0.563000	0.77884	GAG	NSFL1C	-	NULL		0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	C	NM_016143		1434911	-1	no_errors	ENST00000350991	ensembl	human	known	70_37	missense	SNP	1.000	T
NSUN5	55695	genome.wustl.edu	37	7	72717964	72717964	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:72717964G>A	ENST00000252594.6	-	8	1019	c.1004C>T	c.(1003-1005)gCa>gTa	p.A335V	NSUN5_ENST00000428206.1_Missense_Mutation_p.A297V|NSUN5_ENST00000310326.8_Missense_Mutation_p.A335V|NSUN5_ENST00000438747.2_Missense_Mutation_p.A335V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	335					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGAACCCTGCCAGGGCATG	0.617																																																	0													41.0	44.0	43.0					7																	72717964		2203	4300	6503	SO:0001583	missense	55695			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1004C>T	7.37:g.72717964G>A	ENSP00000252594:p.Ala335Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.A335V	ENST00000252594.6	37	c.1004	CCDS5547.1	7	.	.	.	.	.	.	.	.	.	.	.	18.90	3.721731	0.68959	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.25	4.25	0.50352	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.208574	0.50627	D	0.000119	T	0.41236	0.1150	M	0.65320	2	0.44711	D	0.997705	D;D;D;D	0.67145	0.974;0.993;0.99;0.996	P;P;P;D	0.63192	0.722;0.888;0.897;0.912	T	0.35943	-0.9768	10	0.59425	D	0.04	.	15.8779	0.79180	0.0:0.0:1.0:0.0	.	335;297;335;335	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	V	297;335;335;335	ENSP00000393081:A297V;ENSP00000252594:A335V;ENSP00000388464:A335V;ENSP00000309126:A335V	ENSP00000252594:A335V	A	-	2	0	NSUN5	72355900	1.000000	0.71417	0.305000	0.25099	0.434000	0.31775	7.609000	0.82925	2.206000	0.71126	0.485000	0.47835	GCA	NSUN5	-	pfam_Fmu/NOL1/Nop2p		0.617	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	G	NM_148956		72717964	-1	no_errors	ENST00000438747	ensembl	human	known	70_37	missense	SNP	0.996	A
NUGGC	389643	genome.wustl.edu	37	8	27888822	27888822	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:27888822C>G	ENST00000413272.2	-	15	1988	c.1846G>C	c.(1846-1848)Gaa>Caa	p.E616Q	NUGGC_ENST00000341513.6_Missense_Mutation_p.E616Q	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	616					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ATCCCAATTTCTGTCATTTTC	0.448																																																	0													133.0	135.0	134.0					8																	27888822		1861	4107	5968	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1846G>C	8.37:g.27888822C>G	ENSP00000408697:p.Glu616Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.E616Q	ENST00000413272.2	37	c.1846	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648561	0.47258	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.35789	1.29;1.29	5.23	4.35	0.52113	.	0.336949	0.32147	N	0.006517	T	0.21347	0.0514	L	0.29908	0.895	0.28032	N	0.934107	P	0.42827	0.791	B	0.35240	0.198	T	0.10965	-1.0607	10	0.29301	T	0.29	-22.6263	8.7616	0.34678	0.0:0.8997:0.0:0.1003	.	616	Q68CJ6	SLIP_HUMAN	Q	616	ENSP00000408697:E616Q;ENSP00000345031:E616Q	ENSP00000345031:E616Q	E	-	1	0	C8orf80	27944741	0.322000	0.24634	0.905000	0.35620	0.730000	0.41778	1.512000	0.35812	2.441000	0.82636	0.655000	0.94253	GAA	NUGGC	-	NULL		0.448	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27888822	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.674	G
NUP188	23511	genome.wustl.edu	37	9	131747303	131747303	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131747303G>A	ENST00000372577.2	+	20	2097					NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGTACAGTCTGATTTTGTTCA	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													146.0	117.0	127.0					9																	131747303		2203	4300	6503	SO:0001627	intron_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2076+10G>A	9.37:g.131747303G>A		Somatic	1590	WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	RNA	SNP	-	NULL	ENST00000372577.2	37	NULL	CCDS35156.1	9																																																																																			NUP188	-	-		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	G			131747303	+1	no_errors	ENST00000465344	ensembl	human	putative	70_37	rna	SNP	0.000	A
NUP188	23511	genome.wustl.edu	37	9	131747323	131747323	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131747323G>C	ENST00000372577.2	+	20	2097					NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACAAAGGGCAGAAAAAGAAAA	0.463											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													112.0	91.0	98.0					9																	131747323		2203	4300	6503	SO:0001627	intron_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2076+30G>C	9.37:g.131747323G>C		Somatic	1590	WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	RNA	SNP	-	NULL	ENST00000372577.2	37	NULL	CCDS35156.1	9																																																																																			NUP188	-	-		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	G			131747323	+1	no_errors	ENST00000465344	ensembl	human	putative	70_37	rna	SNP	0.008	C
NUP188	23511	genome.wustl.edu	37	9	131747407	131747407	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131747407G>A	ENST00000372577.2	+	20	2097					NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTGTAGGCAGAATAGTCATC	0.388																																																	0																																										SO:0001627	intron_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2076+114G>A	9.37:g.131747407G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	RNA	SNP	-	NULL	ENST00000372577.2	37	NULL	CCDS35156.1	9																																																																																			NUP188	-	-		0.388	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	G			131747407	+1	no_errors	ENST00000465344	ensembl	human	putative	70_37	rna	SNP	0.000	A
NUP188	23511	genome.wustl.edu	37	9	131747420	131747420	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131747420G>A	ENST00000372577.2	+	20	2097					NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TAGTCATCTTGAAGTTACAGT	0.378																																																	0																																										SO:0001627	intron_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2076+127G>A	9.37:g.131747420G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	RNA	SNP	-	NULL	ENST00000372577.2	37	NULL	CCDS35156.1	9																																																																																			NUP188	-	-		0.378	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	G			131747420	+1	no_errors	ENST00000465344	ensembl	human	putative	70_37	rna	SNP	0.000	A
NXF5	55998	genome.wustl.edu	37	X	101096287	101096287	+	Missense_Mutation	SNP	G	G	A	rs199849270		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101096287G>A	ENST00000361708.2	-	7	696	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	NXF5_ENST00000537026.1_Missense_Mutation_p.R113W|NXF5_ENST00000473265.2_Missense_Mutation_p.R113W			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	113					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACATTGTACCGTTTGTTCATG	0.547																																																	0								G	TRP/ARG	1,3830		0,1,1629,571	34.0	34.0	34.0		337	-0.9	0.0	X		34	1,6673		0,1,2410,1852	no	missense	NXF5	NM_032946.2	101	0,2,4039,2423	AA,AG,GG,G		0.015,0.0261,0.019	probably-damaging	113/366	101096287	2,10503	2201	4263	6464	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.337C>T	X.37:g.101096287G>A	ENSP00000355286:p.Arg113Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	pfam_Tap_RNA-bd	p.R113W	ENST00000361708.2	37	c.337		X	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859693	0.32884	2.61E-4	1.5E-4	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.58797	0.31;0.31;0.31	2.18	-0.91	0.10511	.	0.077917	0.50627	N	0.000108	T	0.52435	0.1734	M	0.91717	3.235	0.44807	D	0.997817	P	0.50443	0.935	B	0.37267	0.245	T	0.52495	-0.8568	10	0.87932	D	0	.	2.2335	0.04002	0.3224:0.0:0.4336:0.244	.	113	A2RRM0	.	W	113	ENSP00000442401:R113W;ENSP00000426978:R113W;ENSP00000355286:R113W	ENSP00000263032:R113W	R	-	1	2	NXF5	100982943	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	1.388000	0.34442	-0.338000	0.08413	-1.693000	0.00726	CGG	NXF5	-	NULL		0.547	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		G			101096287	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	missense	SNP	0.959	A
NYAP2	57624	genome.wustl.edu	37	2	226378118	226378118	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:226378118G>A	ENST00000272907.6	+	3	666	c.253G>A	c.(253-255)Gga>Aga	p.G85R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	85					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G85*(1)									AGGCCACGAAGGAAGTTACGT	0.478																																																	1	Substitution - Nonsense(1)	large_intestine(1)											74.0	76.0	75.0					2																	226378118		2010	4172	6182	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.253G>A	2.37:g.226378118G>A	ENSP00000272907:p.Gly85Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.G85R	ENST00000272907.6	37	c.253	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740035	0.89573	.	.	ENSG00000144460	ENST00000272907	T	0.32515	1.45	5.41	5.41	0.78517	.	0.332930	0.27773	N	0.017914	T	0.46112	0.1376	L	0.56769	1.78	0.80722	D	1	P	0.50369	0.934	P	0.51999	0.687	T	0.38585	-0.9654	10	0.54805	T	0.06	-6.6425	19.1985	0.93699	0.0:0.0:1.0:0.0	.	85	Q9P242	K1486_HUMAN	R	85	ENSP00000272907:G85R	ENSP00000272907:G85R	G	+	1	0	KIAA1486	226086362	1.000000	0.71417	0.476000	0.27291	0.953000	0.61014	3.508000	0.53378	2.532000	0.85374	0.563000	0.77884	GGA	NYAP2	-	NULL		0.478	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	G	NM_020864		226378118	+1	no_errors	ENST00000272907	ensembl	human	known	70_37	missense	SNP	1.000	A
OFD1	8481	genome.wustl.edu	37	X	13770894	13770894	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:13770894G>A	ENST00000340096.6	+	11	1382				OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_3'UTR|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Intron	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTGGAGTTTGGAGGCTCTTCG	0.478																																																	0																																										SO:0001627	intron_variant	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1056-593G>A	X.37:g.13770894G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVU5|O75666|Q4VAK4	RNA	SNP	-	NULL	ENST00000340096.6	37	NULL	CCDS14157.1	X																																																																																			OFD1	-	-		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	G	NM_003611		13770894	+1	no_errors	ENST00000490265	ensembl	human	known	70_37	rna	SNP	0.000	A
OPHN1	4983	genome.wustl.edu	37	X	67316727	67316727	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67316727G>A	ENST00000355520.5	-	19	2312	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Silent_p.I557I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	557	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAAAGTGCTCGATTAGTATTT	0.468																																																	0													177.0	146.0	156.0					X																	67316727		2203	4300	6503	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1671C>T	X.37:g.67316727G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I557	ENST00000355520.5	37	c.1671	CCDS14388.1	X																																																																																			OPHN1	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.468	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1	G	NM_002547		67316727	-1	no_errors	ENST00000355520	ensembl	human	known	70_37	silent	SNP	0.989	A
OGT	8473	genome.wustl.edu	37	X	70787860	70787860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70787860C>T	ENST00000373719.3	+	21	3077	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	OGT_ENST00000373701.3_Nonsense_Mutation_p.R944*	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	954					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCTTGCTTCTCGAGTTGCAGC	0.403																																																	0													229.0	188.0	202.0					X																	70787860		2203	4300	6503	SO:0001587	stop_gained	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2860C>T	X.37:g.70787860C>T	ENSP00000362824:p.Arg954*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R954*	ENST00000373719.3	37	c.2860	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.987296	0.99027	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	4.93	4.05	0.47172	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0859	13.7629	0.62977	0.1545:0.8455:0.0:0.0	.	.	.	.	X	954;944	.	ENSP00000362805:R944X	R	+	1	2	OGT	70704585	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.062000	0.49971	1.035000	0.39972	0.544000	0.68410	CGA	OGT	-	NULL		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	C	NM_003605, NM_181672		70787860	+1	no_errors	ENST00000373719	ensembl	human	known	70_37	nonsense	SNP	1.000	T
OPLAH	26873	genome.wustl.edu	37	8	145111904	145111904	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:145111904C>T	ENST00000426825.1	-	12	1734	c.1653G>A	c.(1651-1653)ctG>ctA	p.L551L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	551					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCGGCTCAGCCTCTGGT	0.677																																																	0													22.0	29.0	26.0					8																	145111904		2127	4233	6360	SO:0001819	synonymous_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1653G>A	8.37:g.145111904C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8																																																																																			OPLAH	-	-		0.677	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		C	NM_017570		145111904	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	0.996	T
OR10J5	127385	genome.wustl.edu	37	1	159505066	159505066	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:159505066G>A	ENST00000334857.2	-	1	776	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TAACCACAGTGAGGTGGGAGA	0.483																																																	0													93.0	90.0	91.0					1																	159505066		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.732C>T	1.37:g.159505066G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L244	ENST00000334857.2	37	c.732	CCDS30910.1	1																																																																																			OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505066	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.807	A
OR10J5	127385	genome.wustl.edu	37	1	159505654	159505654	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:159505654G>A	ENST00000334857.2	-	1	188	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCAGATGATAGTCACAA	0.428																																																	0													172.0	144.0	154.0					1																	159505654		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.144C>T	1.37:g.159505654G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I48	ENST00000334857.2	37	c.144	CCDS30910.1	1																																																																																			OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505654	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.000	A
OR1E1	8387	genome.wustl.edu	37	17	3301252	3301252	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:3301252C>T	ENST00000322608.2	-	1	452	c.453G>A	c.(451-453)ctG>ctA	p.L151L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	151					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GGAAGGTGGTCAGCACCCAGG	0.547																																																	0													80.0	63.0	69.0					17																	3301252		2203	4300	6503	SO:0001819	synonymous_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.453G>A	17.37:g.3301252C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L151	ENST00000322608.2	37	c.453	CCDS11024.1	17																																																																																			OR1E1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.547	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301252	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	silent	SNP	0.020	T
OR2M3	127062	genome.wustl.edu	37	1	248366381	248366381	+	Silent	SNP	G	G	A	rs373873423		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:248366381G>A	ENST00000456743.1	+	1	50	c.12G>A	c.(10-12)gaG>gaA	p.E4E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCAAGGGAGAATTCGACCT	0.443																																																	0													188.0	188.0	188.0					1																	248366381		2203	4300	6503	SO:0001819	synonymous_variant	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.12G>A	1.37:g.248366381G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH06|Q6IEY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E4	ENST00000456743.1	37	c.12	CCDS31107.1	1																																																																																			OR2M3	-	NULL		0.443	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	G	NM_001004689		248366381	+1	no_errors	ENST00000456743	ensembl	human	known	70_37	silent	SNP	0.095	A
OR2M7	391196	genome.wustl.edu	37	1	248487754	248487754	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:248487754G>C	ENST00000317965.2	-	1	145	c.117C>G	c.(115-117)ttC>ttG	p.F39L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTTTCCCATGAAGGCCACTG	0.527																																																	0													263.0	257.0	259.0					1																	248487754		2203	4300	6503	SO:0001583	missense	391196			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.117C>G	1.37:g.248487754G>C	ENSP00000324557:p.Phe39Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F39L	ENST00000317965.2	37	c.117	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.835594	0.00069	.	.	ENSG00000177186	ENST00000317965	T	0.00293	8.26	1.55	-1.3	0.09259	.	1.307360	0.05938	N	0.636514	T	0.00039	0.0001	N	0.00055	-2.375	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34775	-0.9815	10	0.02654	T	1	.	6.0455	0.19758	0.0:0.3473:0.4719:0.1807	.	39	Q8NG81	OR2M7_HUMAN	L	39	ENSP00000324557:F39L	ENSP00000324557:F39L	F	-	3	2	OR2M7	246554377	0.000000	0.05858	0.053000	0.19242	0.342000	0.28953	-2.627000	0.00874	-0.026000	0.13895	0.194000	0.17425	TTC	OR2M7	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.527	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	G	NM_001004691		248487754	-1	no_errors	ENST00000317965	ensembl	human	known	70_37	missense	SNP	0.001	C
OR51M1	390059	genome.wustl.edu	37	11	5411548	5411548	+	Missense_Mutation	SNP	A	A	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5411548A>C	ENST00000328611.3	+	1	942	c.920A>C	c.(919-921)aAg>aCg	p.K307T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	307					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAGCATTAAGACCAAGGAG	0.463																																																	0													32.0	28.0	29.0					11																	5411548		1926	4140	6066	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.920A>C	11.37:g.5411548A>C	ENSP00000333196:p.Lys307Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K307T	ENST00000328611.3	37	c.920	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540012	0.65085	.	.	ENSG00000184698	ENST00000328611	T	0.36699	1.24	5.12	5.12	0.69794	.	0.000000	0.35708	U	0.003038	T	0.74092	0.3671	H	0.98507	4.25	0.34543	D	0.710432	D	0.89917	1.0	D	0.79108	0.992	D	0.88437	0.3039	10	0.87932	D	0	.	13.8844	0.63699	1.0:0.0:0.0:0.0	.	296	Q9H341	O51M1_HUMAN	T	307	ENSP00000333196:K307T	ENSP00000333196:K307T	K	+	2	0	OR51M1	5368124	0.000000	0.05858	1.000000	0.80357	0.963000	0.63663	0.108000	0.15396	2.160000	0.67779	0.533000	0.62120	AAG	OR51M1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.463	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	A	NM_001004756		5411548	+1	no_errors	ENST00000328611	ensembl	human	known	70_37	missense	SNP	1.000	C
OR52N5	390075	genome.wustl.edu	37	11	5799592	5799592	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5799592G>A	ENST00000317093.2	-	1	305	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAAGATGCAGAGTGCATTGG	0.458																																																	0													97.0	93.0	94.0					11																	5799592		2120	4092	6212	SO:0001819	synonymous_variant	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.273C>T	11.37:g.5799592G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH12|Q6IFG2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.L91	ENST00000317093.2	37	c.273	CCDS31397.1	11																																																																																			OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	G	NM_001001922		5799592	-1	no_errors	ENST00000317093	ensembl	human	known	70_37	silent	SNP	0.028	A
OR4X1	390113	genome.wustl.edu	37	11	48285589	48285589	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:48285589C>T	ENST00000320048.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCATGTATTTCTTTCTCAGCT	0.473																																																	0													148.0	135.0	140.0					11																	48285589		2201	4298	6499	SO:0001819	synonymous_variant	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.177C>T	11.37:g.48285589C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F59	ENST00000320048.1	37	c.177	CCDS31487.1	11																																																																																			OR4X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	C	NM_001004726		48285589	+1	no_errors	ENST00000320048	ensembl	human	known	70_37	silent	SNP	0.992	T
OR4C15	81309	genome.wustl.edu	37	11	55322127	55322127	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55322127C>T	ENST00000314644.2	+	1	345	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F115L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTACTTCTTCTTGGGCTTCC	0.443										HNSCC(20;0.049)																																							1	Substitution - Missense(1)	large_intestine(1)											181.0	144.0	156.0					11																	55322127		2201	4296	6497	SO:0001819	synonymous_variant	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.345C>T	11.37:g.55322127C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFE2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F115	ENST00000314644.2	37	c.345	CCDS31501.1	11																																																																																			OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55322127	+1	no_errors	ENST00000314644	ensembl	human	known	70_37	silent	SNP	0.031	T
OR5F1	338674	genome.wustl.edu	37	11	55761413	55761413	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55761413G>A	ENST00000278409.1	-	1	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230L(1)|p.S230*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCTCCCCCGAATGCATAGA	0.478																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|prostate(1)											56.0	55.0	55.0					11																	55761413		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.689C>T	11.37:g.55761413G>A	ENSP00000278409:p.Ser230Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495D1|Q6IFB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230L	ENST00000278409.1	37	c.689	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717160	0.15372	.	.	ENSG00000149133	ENST00000278409	T	0.00330	8.08	2.99	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00724	0.0024	M	0.91300	3.195	0.09310	N	1	D	0.55800	0.973	P	0.52109	0.69	T	0.31998	-0.9923	9	0.87932	D	0	.	12.8727	0.57975	0.0:0.0:1.0:0.0	.	230	O95221	OR5F1_HUMAN	L	230	ENSP00000278409:S230L	ENSP00000278409:S230L	S	-	2	0	OR5F1	55517989	0.065000	0.20965	0.082000	0.20525	0.055000	0.15305	0.878000	0.28126	1.417000	0.47077	0.289000	0.19496	TCG	OR5F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	G	NM_003697		55761413	-1	no_errors	ENST00000278409	ensembl	human	known	70_37	missense	SNP	0.013	A
OR5F1	338674	genome.wustl.edu	37	11	55762043	55762043	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:55762043G>A	ENST00000278409.1	-	1	58	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	20					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T20M(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGCTCCAGCGTGTCTGCTAA	0.363																																																	1	Substitution - Missense(1)	ovary(1)											62.0	63.0	63.0					11																	55762043		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.59C>T	11.37:g.55762043G>A	ENSP00000278409:p.Thr20Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495D1|Q6IFB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T20M	ENST00000278409.1	37	c.59	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665085	0.29604	.	.	ENSG00000149133	ENST00000278409	T	0.01099	5.34	3.03	-0.459	0.12179	.	.	.	.	.	T	0.01489	0.0048	L	0.39898	1.24	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.52132	-0.8616	9	0.52906	T	0.07	.	4.5639	0.12173	0.2347:0.0:0.5879:0.1774	.	20	O95221	OR5F1_HUMAN	M	20	ENSP00000278409:T20M	ENSP00000278409:T20M	T	-	2	0	OR5F1	55518619	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.010000	0.00314	0.395000	0.25257	0.297000	0.19635	ACG	OR5F1	-	NULL		0.363	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	G	NM_003697		55762043	-1	no_errors	ENST00000278409	ensembl	human	known	70_37	missense	SNP	0.000	A
OR5AR1	219493	genome.wustl.edu	37	11	56431445	56431445	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:56431445C>G	ENST00000302969.2	+	1	308	c.284C>G	c.(283-285)tCc>tGc	p.S95C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCTCCTTCTCCAGCTGTGCC	0.502																																																	0													182.0	185.0	184.0					11																	56431445		2201	4296	6497	SO:0001583	missense	219493			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.284C>G	11.37:g.56431445C>G	ENSP00000302639:p.Ser95Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S95C	ENST00000302969.2	37	c.284	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267672	0.40095	.	.	ENSG00000172459	ENST00000302969	T	0.00408	7.54	5.04	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000428	T	0.00356	0.0011	L	0.46819	1.47	0.09310	N	1	P	0.52463	0.953	B	0.39971	0.315	T	0.60767	-0.7198	10	0.37606	T	0.19	.	13.811	0.63264	0.1541:0.8459:0.0:0.0	.	95	Q8NGP9	O5AR1_HUMAN	C	95	ENSP00000302639:S95C	ENSP00000302639:S95C	S	+	2	0	OR5AR1	56188021	0.000000	0.05858	0.998000	0.56505	0.848000	0.48234	-0.829000	0.04415	1.314000	0.45095	0.573000	0.79308	TCC	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	C	NM_001004730		56431445	+1	no_errors	ENST00000302969	ensembl	human	known	70_37	missense	SNP	0.089	G
OSR1	130497	genome.wustl.edu	37	2	19553095	19553095	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:19553095G>C	ENST00000272223.2	-	2	816	c.472C>G	c.(472-474)Cca>Gca	p.P158A	OSR1_ENST00000536433.1_Missense_Mutation_p.P158A	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	158					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TTCTTTTCTGGAGACAGCTTG	0.607																																																	0													79.0	80.0	80.0					2																	19553095		2203	4300	6503	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.472C>G	2.37:g.19553095G>C	ENSP00000272223:p.Pro158Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV97|D6W521	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P158A	ENST00000272223.2	37	c.472	CCDS1694.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044173	0.75732	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.08370	3.1;3.1	5.94	5.94	0.96194	.	0.048724	0.85682	D	0.000000	T	0.15435	0.0372	L	0.58428	1.81	0.80722	D	1	P	0.35124	0.485	B	0.39904	0.313	T	0.01635	-1.1307	9	.	.	.	-8.7799	20.0187	0.97487	0.0:0.0:1.0:0.0	.	158	Q8TAX0	OSR1_HUMAN	A	158	ENSP00000272223:P158A;ENSP00000441801:P158A	.	P	-	1	0	OSR1	19416576	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	6.770000	0.74990	2.834000	0.97654	0.650000	0.86243	CCA	OSR1	-	NULL		0.607	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553095	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	missense	SNP	1.000	C
OSR1	130497	genome.wustl.edu	37	2	19553114	19553114	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:19553114G>C	ENST00000272223.2	-	2	797	c.453C>G	c.(451-453)ctC>ctG	p.L151L	OSR1_ENST00000536433.1_Silent_p.L151L	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	151					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGGTCACGTCGAGGAGGGCAC	0.607																																																	0													63.0	67.0	66.0					2																	19553114		2203	4300	6503	SO:0001819	synonymous_variant	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.453C>G	2.37:g.19553114G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV97|D6W521	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L151	ENST00000272223.2	37	c.453	CCDS1694.1	2																																																																																			OSR1	-	NULL		0.607	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553114	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	silent	SNP	0.994	C
OXCT2	64064	genome.wustl.edu	37	1	40235401	40235401	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:40235401G>C	ENST00000327582.5	-	1	1619	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	509					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GCATGGGCCTGAGGTTCGGGG	0.642																																																	0													40.0	38.0	39.0					1																	40235401		2203	4300	6503	SO:0001819	synonymous_variant	64064			AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1527C>G	1.37:g.40235401G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.L509	ENST00000327582.5	37	c.1527	CCDS445.1	1																																																																																			OXCT2	-	pirsf_3-oxoacid_CoA-transferase		0.642	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT2	HGNC	protein_coding	OTTHUMT00000025656.1	G	NM_022120		40235401	-1	no_errors	ENST00000327582	ensembl	human	known	70_37	silent	SNP	0.001	C
P2RY14	9934	genome.wustl.edu	37	3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453																																																	0													74.0	64.0	67.0					3																	150931786		2203	4300	6503	SO:0001583	missense	9934			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.319G>A	3.37:g.150931786C>T	ENSP00000308361:p.Val107Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYT7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_UDPG_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor	p.V107I	ENST00000309170.3	37	c.319	CCDS3156.1	3	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291672	0.10567	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.72725	-0.68;-0.68	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.093881	0.42821	D	0.000657	T	0.41926	0.1180	N	0.03224	-0.385	0.31518	N	0.662732	B	0.27068	0.167	B	0.17722	0.019	T	0.43442	-0.9391	10	0.48119	T	0.1	-40.3576	5.5463	0.17065	0.0:0.7385:0.0:0.2615	.	107	Q15391	P2Y14_HUMAN	I	107	ENSP00000308361:V107I;ENSP00000408733:V107I	ENSP00000308361:V107I	V	-	1	0	P2RY14	152414476	0.171000	0.23029	0.984000	0.44739	0.976000	0.68499	1.005000	0.29834	2.732000	0.93576	0.650000	0.86243	GTC	P2RY14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY14	HGNC	protein_coding	OTTHUMT00000357789.1	C	NM_014879		150931786	-1	no_errors	ENST00000309170	ensembl	human	known	70_37	missense	SNP	0.989	T
P4HA2	8974	genome.wustl.edu	37	5	131553006	131553006	+	Missense_Mutation	SNP	G	G	A	rs200158840		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:131553006G>A	ENST00000401867.1	-	5	783	c.215C>T	c.(214-216)tCa>tTa	p.S72L	P4HA2_ENST00000166534.4_Missense_Mutation_p.S72L|P4HA2_ENST00000379100.2_Missense_Mutation_p.S72L|P4HA2_ENST00000360568.3_Missense_Mutation_p.S72L|P4HA2_ENST00000379086.1_Missense_Mutation_p.S72L|P4HA2_ENST00000379104.2_Missense_Mutation_p.S72L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	72					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATCAGCAGCTGACTTGCTAGT	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													124.0	105.0	112.0					5																	131553006		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.215C>T	5.37:g.131553006G>A	ENSP00000384999:p.Ser72Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S72L	ENST00000401867.1	37	c.215	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941548	0.92526	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.03	5.16	0.70880	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.111700	0.64402	N	0.000006	T	0.58250	0.2109	M	0.82517	2.595	0.80722	D	1	P;P	0.51933	0.949;0.753	P;B	0.50537	0.643;0.406	T	0.67122	-0.5750	10	0.87932	D	0	-13.1633	15.343	0.74311	0.0666:0.0:0.9334:0.0	.	72;72	O15460;O15460-2	P4HA2_HUMAN;.	L	72;72;72;72;72;72;72;104;72;72;72;72;72;72	ENSP00000384999:S72L;ENSP00000368379:S72L;ENSP00000166534:S72L;ENSP00000353772:S72L;ENSP00000368398:S72L;ENSP00000368394:S72L	ENSP00000166534:S72L	S	-	2	0	P4HA2	131580905	1.000000	0.71417	0.958000	0.39756	0.910000	0.53928	9.476000	0.97823	1.563000	0.49615	-0.140000	0.14226	TCA	P4HA2	-	pfam_Pro_4_hyd_alph_N		0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	G	NM_004199		131553006	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	1.000	A
P4HB	5034	genome.wustl.edu	37	17	79801944	79801944	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79801944C>T	ENST00000331483.4	-	11	1693	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Missense_Mutation_p.E447K|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	491					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTGGCTCCTCTGCTTCTTCC	0.617																																					Colon(49;444 983 1296 7887 42561)												0													193.0	190.0	191.0					17																	79801944		2203	4300	6503	SO:0001583	missense	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1471G>A	17.37:g.79801944C>T	ENSP00000327801:p.Glu491Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E491K	ENST00000331483.4	37	c.1471	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.951305|3.951305	0.73787|0.73787	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.03717|.	3.83|.	5.47|5.47	3.41|3.41	0.39046|0.39046	Thioredoxin-like fold (1);|.	0.230747|.	0.44483|.	D|.	0.000458|.	T|T	0.41971|0.41971	0.1182|0.1182	N|N	0.19112|0.19112	0.55|0.55	0.37116|0.37116	D|D	0.900581|0.900581	B|.	0.20780|.	0.048|.	B|.	0.24394|.	0.053|.	T|T	0.35968|0.35968	-0.9767|-0.9767	10|5	0.13470|.	T|.	0.59|.	.|.	11.9391|11.9391	0.52890|0.52890	0.1404:0.7321:0.1274:0.0|0.1404:0.7321:0.1274:0.0	.|.	491|.	P07237|.	PDIA1_HUMAN|.	K|K	491;434;475|256	ENSP00000327801:E491K|.	ENSP00000327801:E491K|.	E|R	-|-	1|2	0|0	P4HB|P4HB	77395233|77395233	0.996000|0.996000	0.38824|0.38824	0.013000|0.013000	0.15412|0.15412	0.979000|0.979000	0.70002|0.70002	4.092000|4.092000	0.57707|0.57707	0.621000|0.621000	0.30232|0.30232	0.655000|0.655000	0.94253|0.94253	GAG|AGA	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.617	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	C	NM_000918		79801944	-1	no_errors	ENST00000331483	ensembl	human	known	70_37	missense	SNP	0.620	T
P4HB	5034	genome.wustl.edu	37	17	79801950	79801950	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:79801950C>T	ENST00000331483.4	-	11	1687	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Missense_Mutation_p.E445K|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	489					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.E489S(1)|p.E489*(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTGCTTCTTCCAGGTCC	0.607																																					Colon(49;444 983 1296 7887 42561)												2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											181.0	181.0	181.0					17																	79801950		2203	4300	6503	SO:0001583	missense	5034			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1465G>A	17.37:g.79801950C>T	ENSP00000327801:p.Glu489Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E489K	ENST00000331483.4	37	c.1465	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.266503|4.266503	0.80358|0.80358	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.03920|.	3.76|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.665977|.	0.15229|.	N|.	0.273503|.	T|T	0.37517|0.37517	0.1006|0.1006	N|N	0.08118|0.08118	0|0	0.48236|0.48236	D|D	0.999614|0.999614	B|.	0.30482|.	0.281|.	B|.	0.27796|.	0.083|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.48119|.	T|.	0.1|.	.|.	13.0723|13.0723	0.59068|0.59068	0.0:0.9163:0.0:0.0837|0.0:0.9163:0.0:0.0837	.|.	489|.	P07237|.	PDIA1_HUMAN|.	K|K	489;432;473|254	ENSP00000327801:E489K|.	ENSP00000327801:E489K|.	E|R	-|-	1|2	0|0	P4HB|P4HB	77395239|77395239	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.938000|0.938000	0.57974|0.57974	4.087000|4.087000	0.57671|0.57671	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAA|AGA	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase		0.607	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	C	NM_000918		79801950	-1	no_errors	ENST00000331483	ensembl	human	known	70_37	missense	SNP	0.997	T
PABPC1L	80336	genome.wustl.edu	37	20	43547895	43547895	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:43547895G>A	ENST00000217073.2	+	5	715	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PABPC1L_ENST00000537323.1_Missense_Mutation_p.E239K|PABPC1L_ENST00000255136.3_Missense_Mutation_p.E239K|PABPC1L_ENST00000217074.4_Missense_Mutation_p.E239K			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	239	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTCAACTTTGAGAAGCATGA	0.577																																																	0													63.0	58.0	60.0					20																	43547895		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.715G>A	20.37:g.43547895G>A	ENSP00000217073:p.Glu239Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.E239K	ENST00000217073.2	37	c.715	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266845	0.80469	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.15	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.357768	0.32671	N	0.005782	D	0.85513	0.5714	L	0.35644	1.08	0.47949	D	0.99955	P	0.43094	0.799	P	0.51657	0.676	D	0.85921	0.1446	10	0.48119	T	0.1	.	15.89	0.79291	0.0:0.1355:0.8645:0.0	.	239	Q4VXU2	PAP1L_HUMAN	K	239	ENSP00000217074:E239K;ENSP00000255136:E239K;ENSP00000445661:E239K;ENSP00000217073:E239K	ENSP00000217073:E239K	E	+	1	0	PABPC1L	42981309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.446000	0.73460	1.385000	0.46445	0.563000	0.77884	GAG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.577	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43547895	+1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	1.000	A
PABPC3	5042	genome.wustl.edu	37	13	25670507	25670507	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:25670507G>A	ENST00000281589.3	+	1	208	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	57	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGCGTATGTGAACTTCCAGC	0.547																																																	0													89.0	82.0	84.0					13																	25670507		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.171G>A	13.37:g.25670507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.V57	ENST00000281589.3	37	c.171	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	G	NM_030979		25670507	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	silent	SNP	1.000	A
MED29	55588	genome.wustl.edu	37	19	39879801	39879801	+	5'Flank	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:39879801C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.E157K|PAF1_ENST00000221266.7_Missense_Mutation_p.E157K|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.E167K|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTGTATATTTCTTCCTCGGTA	0.478																																																	0													137.0	138.0	138.0					19																	39879801		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879801C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.E167K	ENST00000599213.2	37	c.499		19	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003795	0.54254	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.32	5.32	0.75619	.	0.050958	0.85682	D	0.000000	T	0.48352	0.1495	L	0.43152	1.355	0.58432	D	0.999999	P;B	0.35033	0.481;0.166	B;B	0.34824	0.19;0.082	T	0.40251	-0.9573	9	0.08837	T	0.75	-19.0194	16.5374	0.84376	0.0:1.0:0.0:0.0	.	157;167	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	K	167;157;114	.	ENSP00000221265:E167K	E	-	1	0	PAF1	44571641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.767000	0.95098	0.563000	0.77884	GAA	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.478	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	C	XM_290829		39879801	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	T
PALB2	79728	genome.wustl.edu	37	16	23634403	23634403	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:23634403C>T	ENST00000261584.4	-	9	3035	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	961	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTCCAGACTTCAGTAGTACTT	0.403			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													103.0	93.0	96.0					16																	23634403		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2883G>A	16.37:g.23634403C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.L961	ENST00000261584.4	37	c.2883	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom		0.403	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23634403	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	silent	SNP	0.897	T
PAPD4	167153	genome.wustl.edu	37	5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:78975427C>T	ENST00000296783.3	+	14	1533	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000453514.1_Missense_Mutation_p.R412C			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313																																																	0													111.0	102.0	105.0					5																	78975427		2203	4300	6503	SO:0001583	missense	167153			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1234C>T	5.37:g.78975427C>T	ENSP00000296783:p.Arg412Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WZ2|Q8N927	Missense_Mutation	SNP	pfam_PAP_assoc	p.R412C	ENST00000296783.3	37	c.1234	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804361	0.90623	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	6.06	6.06	0.98353	PAP/25A-associated (1);	0.181768	0.48286	D	0.000193	D	0.94175	0.8131	H	0.94620	3.56	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.78314	0.991;0.979;0.786	D	0.94718	0.7898	10	0.87932	D	0	-3.9091	20.6282	0.99521	0.0:1.0:0.0:0.0	.	412;408;369	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	C	412;408;369;412;412	ENSP00000397563:R412C;ENSP00000393412:R408C;ENSP00000421966:R369C;ENSP00000396861:R412C;ENSP00000296783:R412C	ENSP00000296783:R412C	R	+	1	0	PAPD4	79011183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.130000	0.71663	2.871000	0.98454	0.655000	0.94253	CGT	PAPD4	-	pfam_PAP_assoc		0.313	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	C	NM_173797		78975427	+1	no_errors	ENST00000296783	ensembl	human	known	70_37	missense	SNP	1.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176525551	176525551	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:176525551G>A	ENST00000367662.3	+	2	1257	c.93G>A	c.(91-93)aaG>aaA	p.K31K	PAPPA2_ENST00000367661.3_Silent_p.K31K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	31					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K31N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGACACGCAAGAAATCCTTGG	0.537																																																	2	Substitution - Missense(2)	lung(2)											95.0	95.0	95.0					1																	176525551		2015	4201	6216	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.93G>A	1.37:g.176525551G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.K31	ENST00000367662.3	37	c.93	CCDS41438.1	1																																																																																			PAPPA2	-	NULL		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	G			176525551	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	silent	SNP	0.463	A
PASD1	139135	genome.wustl.edu	37	X	150840129	150840129	+	Missense_Mutation	SNP	G	G	A	rs370064836		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:150840129G>A	ENST00000370357.4	+	13	1560	c.1315G>A	c.(1315-1317)Gct>Act	p.A439T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	439						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACAACACGCTGGGCAAGT	0.488																																																	0								G	THR/ALA	0,3835		0,0,1632,571	157.0	126.0	137.0		1315	-6.1	0.0	X		137	1,6727		0,1,2427,1872	no	missense	PASD1	NM_173493.2	58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	439/774	150840129	1,10562	2203	4300	6503	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1315G>A	X.37:g.150840129G>A	ENSP00000359382:p.Ala439Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	smart_PAS,pfscan_PAS	p.A439T	ENST00000370357.4	37	c.1315	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.968354	0.00457	0.0	1.49E-4	ENSG00000166049	ENST00000370357	T	0.19669	2.13	3.03	-6.05	0.02172	.	.	.	.	.	T	0.05547	0.0146	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.30078	T	0.28	-22.2859	2.4736	0.04570	0.1285:0.3857:0.2732:0.2126	.	439	Q8IV76	PASD1_HUMAN	T	439	ENSP00000359382:A439T	ENSP00000359382:A439T	A	+	1	0	PASD1	150590785	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.021000	0.03615	-4.091000	0.00074	-1.318000	0.01297	GCT	PASD1	-	NULL		0.488	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	G	NM_173493		150840129	+1	no_errors	ENST00000370357	ensembl	human	known	70_37	missense	SNP	0.000	A
PCDH1	5097	genome.wustl.edu	37	5	141233619	141233619	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:141233619C>G	ENST00000287008.3	-	5	3849	c.3702G>C	c.(3700-3702)gaG>gaC	p.E1234D	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACAGGTAGATCTCGCGCTTGG	0.687																																					Ovarian(132;1609 1739 4190 14731 45037)												0													19.0	24.0	23.0					5																	141233619		2201	4300	6501	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3702G>C	5.37:g.141233619C>G	ENSP00000287008:p.Glu1234Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1234D	ENST00000287008.3	37	c.3702	CCDS4267.1	5	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187672	0.57909	.	.	ENSG00000156453	ENST00000287008	T	0.59772	0.24	4.97	3.85	0.44370	.	0.000000	0.35936	U	0.002890	T	0.43144	0.1234	L	0.32530	0.975	0.80722	D	1	B	0.23990	0.095	B	0.28465	0.09	T	0.48736	-0.9009	10	0.87932	D	0	.	5.1179	0.14845	0.0:0.7449:0.0:0.2551	.	1234	Q08174-2	.	D	1234	ENSP00000287008:E1234D	ENSP00000287008:E1234D	E	-	3	2	PCDH1	141213803	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.629000	0.37071	2.457000	0.83068	0.462000	0.41574	GAG	PCDH1	-	NULL		0.687	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000320587.2	C	NM_032420		141233619	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDH17	27253	genome.wustl.edu	37	13	58208350	58208350	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:58208350C>T	ENST00000377918.3	+	1	1696	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTAAGGACTCGGGGGCGCCC	0.587																																					Melanoma(72;952 1291 1619 12849 33676)												0													39.0	41.0	40.0					13																	58208350		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1670C>T	13.37:g.58208350C>T	ENSP00000367151:p.Ser557Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S557L	ENST00000377918.3	37	c.1670	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203300	0.38905	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.105654	0.64402	D	0.000002	T	0.44477	0.1295	L	0.42632	1.34	0.48452	D	0.999657	B;B	0.17268	0.017;0.021	B;B	0.18263	0.012;0.021	T	0.22277	-1.0221	9	.	.	.	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	557;557	O14917-2;O14917	.;PCD17_HUMAN	L	557	ENSP00000367151:S557L	.	S	+	2	0	PCDH17	57106351	1.000000	0.71417	0.970000	0.41538	0.892000	0.51952	4.778000	0.62368	2.797000	0.96272	0.561000	0.74099	TCG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208350	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.996	T
PCDH17	27253	genome.wustl.edu	37	13	58208837	58208837	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:58208837C>T	ENST00000377918.3	+	1	2183	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	719					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCATCATCCTCCTAGCGGCCA	0.607																																					Melanoma(72;952 1291 1619 12849 33676)												0													78.0	76.0	77.0					13																	58208837		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2157C>T	13.37:g.58208837C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L719	ENST00000377918.3	37	c.2157	CCDS31986.1	13																																																																																			PCDH17	-	NULL		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208837	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDHA6	56142	genome.wustl.edu	37	5	140208714	140208714	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140208714C>A	ENST00000529310.1	+	1	1152	c.1038C>A	c.(1036-1038)aaC>aaA	p.N346K	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.N346K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGATAACGTCCCTGAGA	0.453																																																	0													63.0	65.0	65.0					5																	140208714		2202	4280	6482	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1038C>A	5.37:g.140208714C>A	ENSP00000433378:p.Asn346Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N346K	ENST00000529310.1	37	c.1038	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	8.784	0.929009	0.18131	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01745	4.66;4.66	3.7	-2.85	0.05734	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39544	U	0.001323	T	0.15176	0.0366	H	0.98407	4.225	0.19775	N	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.98;0.999	T	0.02037	-1.1225	10	0.87932	D	0	.	11.228	0.48895	0.0:0.5223:0.0:0.4777	.	346;346;346	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	K	346	ENSP00000433378:N346K;ENSP00000434113:N346K	ENSP00000434113:N346K	N	+	3	2	PCDHA6	140188898	0.000000	0.05858	0.140000	0.22221	0.240000	0.25518	-3.253000	0.00539	-0.414000	0.07495	0.313000	0.20887	AAC	PCDHA6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	C	NM_018909		140208714	+1	no_errors	ENST00000529310	ensembl	human	known	70_37	missense	SNP	0.039	A
PCDHAC2	56134	genome.wustl.edu	37	5	140348363	140348363	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140348363C>T	ENST00000289269.5	+	1	2544	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCACTATCAGCCTCTGTG	0.493																																					Melanoma(190;638 2083 3390 11909 52360)												0													76.0	69.0	71.0					5																	140348363		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2012C>T	5.37:g.140348363C>T	ENSP00000289269:p.Ser671Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S671L	ENST00000289269.5	37	c.2012	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904327	0.52333	.	.	ENSG00000243232	ENST00000289269	T	0.55588	0.51	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.35407	N	0.003238	T	0.81465	0.4828	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.84920	0.0853	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	671;671	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	L	671	ENSP00000289269:S671L	ENSP00000289269:S671L	S	+	2	0	PCDHAC2	140328547	1.000000	0.71417	0.985000	0.45067	0.073000	0.16967	7.800000	0.85949	2.865000	0.98341	0.655000	0.94253	TCA	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.493	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	C	NM_018899		140348363	+1	no_errors	ENST00000289269	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHGA9	56107	genome.wustl.edu	37	5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A	rs370966293		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:140783915G>A	ENST00000573521.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468																																																	0													82.0	81.0	82.0					5																	140783915		1945	4165	6110	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1396G>A	5.37:g.140783915G>A	ENSP00000460274:p.Ala466Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A466T	ENST00000573521.1	37	c.1396	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.468	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	G	NM_018921		140783915	+1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.001	A
PCK2	5106	genome.wustl.edu	37	14	24568910	24568910	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:24568910G>C	ENST00000216780.4	+	6	1264	c.996G>C	c.(994-996)tgG>tgC	p.W332C	PCK2_ENST00000545054.2_Missense_Mutation_p.W198C|PCK2_ENST00000396973.4_Missense_Mutation_p.W332C|PCK2_ENST00000559250.1_Missense_Mutation_p.W344C|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.W198C|PCK2_ENST00000558096.1_Missense_Mutation_p.W198C	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	332					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATATTGCTTGGATGAGGTTTG	0.542																																																	0													218.0	188.0	198.0					14																	24568910		2203	4300	6503	SO:0001583	missense	5106			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.996G>C	14.37:g.24568910G>C	ENSP00000216780:p.Trp332Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.W332C	ENST00000216780.4	37	c.996	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346249	0.61073	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.07567	3.18;3.18;3.18	5.6	3.68	0.42216	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.099660	0.85682	N	0.000000	T	0.40196	0.1107	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56414	-0.7983	10	0.87932	D	0	-10.4	13.7959	0.63171	0.0:0.2936:0.7064:0.0	.	198;332;332;332	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	C	332;332;198	ENSP00000216780:W332C;ENSP00000380171:W332C;ENSP00000441826:W198C	ENSP00000216780:W332C	W	+	3	0	PCK2	23638750	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.428000	0.97476	0.653000	0.30826	0.561000	0.74099	TGG	PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP		0.542	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	G	NM_001018073		24568910	+1	no_errors	ENST00000216780	ensembl	human	known	70_37	missense	SNP	1.000	C
PCLO	27445	genome.wustl.edu	37	7	82390753	82390753	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:82390753C>T	ENST00000333891.9	-	23	15401	c.15064G>A	c.(15064-15066)Gat>Aat	p.D5022N		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTCACCATCTGTCTTCATT	0.313																																																	0													143.0	128.0	132.0					7																	82390753		1805	4059	5864	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15064G>A	7.37:g.82390753C>T	ENSP00000334319:p.Asp5022Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.D5022N	ENST00000333891.9	37	c.15064	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428156	0.62844	.	.	ENSG00000186472	ENST00000333891	T	0.07908	3.15	5.33	5.33	0.75918	.	0.119123	0.30771	U	0.008908	T	0.15696	0.0378	N	0.12746	0.255	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.21552	-1.0242	10	0.87932	D	0	.	19.0274	0.92937	0.0:1.0:0.0:0.0	.	5022	Q9Y6V0-5	.	N	5022	ENSP00000334319:D5022N	ENSP00000334319:D5022N	D	-	1	0	PCLO	82228689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.470000	0.83445	0.650000	0.86243	GAT	PCLO	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.313	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82390753	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	T
PCYOX1	51449	genome.wustl.edu	37	2	70485306	70485306	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:70485306G>A	ENST00000433351.2	+	1	38	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.V4I|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	4					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CATGGGGCGCGTCGTCGCGGA	0.716																																																	0													37.0	38.0	38.0					2																	70485306		2202	4300	6502	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.10G>A	2.37:g.70485306G>A	ENSP00000387654:p.Val4Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.V4I	ENST00000433351.2	37	c.10	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502944	0.26949	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.43294	2.55;0.95	4.54	-9.08	0.00720	.	3.212120	0.01097	N	0.005291	T	0.17492	0.0420	N	0.08118	0	0.09310	N	0.999995	B;B	0.20261	0.043;0.043	B;B	0.10450	0.005;0.005	T	0.09058	-1.0692	10	0.20046	T	0.44	0.9988	4.8785	0.13668	0.1247:0.1016:0.5163:0.2575	.	4;4	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	I	4	ENSP00000387654:V4I;ENSP00000264441:V4I	ENSP00000264441:V4I	V	+	1	0	PCYOX1	70338810	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.781000	0.00773	-1.795000	0.01255	-0.389000	0.06534	GTC	PCYOX1	-	pirsf_Prenylcysteine_Oxase		0.716	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	G	NM_016297		70485306	+1	no_errors	ENST00000433351	ensembl	human	known	70_37	missense	SNP	0.000	A
PCYOX1	51449	genome.wustl.edu	37	2	70485372	70485372	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:70485372G>A	ENST00000433351.2	+	1	104	c.76G>A	c.(76-78)Gag>Aag	p.E26K	PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.E26K|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	26					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CGGATGCCCCGAGGGCGCCGA	0.726																																																	0													28.0	31.0	30.0					2																	70485372		2201	4295	6496	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.76G>A	2.37:g.70485372G>A	ENSP00000387654:p.Glu26Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.E26K	ENST00000433351.2	37	c.76	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	7.273	0.607506	0.14002	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.42131	2.57;0.98	4.62	4.62	0.57501	.	0.482899	0.21116	N	0.079894	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.07616	-1.0763	10	0.18710	T	0.47	-7.2546	12.871	0.57965	0.0:0.0:1.0:0.0	.	26;26	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	K	26	ENSP00000387654:E26K;ENSP00000264441:E26K	ENSP00000264441:E26K	E	+	1	0	PCYOX1	70338876	0.993000	0.37304	0.913000	0.36048	0.011000	0.07611	2.863000	0.48396	2.401000	0.81631	0.499000	0.49734	GAG	PCYOX1	-	pirsf_Prenylcysteine_Oxase		0.726	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	G	NM_016297		70485372	+1	no_errors	ENST00000433351	ensembl	human	known	70_37	missense	SNP	0.710	A
PDE6A	5145	genome.wustl.edu	37	5	149276280	149276280	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:149276280C>G	ENST00000255266.5	-	11	1586	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	489					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TCACCAGGATCTCAGCCAGCT	0.537																																																	0													159.0	153.0	155.0					5																	149276280		2203	4300	6503	SO:0001583	missense	5145				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1467G>C	5.37:g.149276280C>G	ENSP00000255266:p.Glu489Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E489D	ENST00000255266.5	37	c.1467	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292376	0.23564	.	.	ENSG00000132915	ENST00000255266	T	0.62788	0.0	5.9	2.69	0.31865	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.274170	0.34046	N	0.004313	T	0.41351	0.1155	L	0.33093	0.98	0.38838	D	0.956007	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.15499	T	0.54	.	3.2766	0.06901	0.1605:0.5429:0.1567:0.1399	.	489	P16499	PDE6A_HUMAN	D	489	ENSP00000255266:E489D	ENSP00000255266:E489D	E	-	3	2	PDE6A	149256473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.832000	0.27490	0.820000	0.34516	-0.181000	0.13052	GAG	PDE6A	-	NULL		0.537	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	C			149276280	-1	no_errors	ENST00000255266	ensembl	human	known	70_37	missense	SNP	1.000	G
PDE9A	5152	genome.wustl.edu	37	21	44185528	44185528	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:44185528G>T	ENST00000291539.6	+	15	1340	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	PDE9A_ENST00000335512.4_Missense_Mutation_p.R367I|PDE9A_ENST00000398232.3_Missense_Mutation_p.R360I|PDE9A_ENST00000380328.2_Missense_Mutation_p.R374I|PDE9A_ENST00000398234.3_Missense_Mutation_p.R326I|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.R341I|PDE9A_ENST00000398229.3_Missense_Mutation_p.R293I|PDE9A_ENST00000398225.3_Missense_Mutation_p.R386I|PDE9A_ENST00000539837.1_Missense_Mutation_p.R299I|PDE9A_ENST00000398227.3_Missense_Mutation_p.R267I|PDE9A_ENST00000328862.6_Missense_Mutation_p.R401I|PDE9A_ENST00000398224.3_Missense_Mutation_p.R300I|PDE9A_ENST00000335440.6_Missense_Mutation_p.R325I|PDE9A_ENST00000349112.3_Missense_Mutation_p.R299I	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	427	Catalytic. {ECO:0000250}.				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)	GACATGGCAAGACATGCAGAA	0.438																																																	0													86.0	78.0	81.0					21																	44185528		2203	4300	6503	SO:0001583	missense	5152			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.1280G>T	21.37:g.44185528G>T	ENSP00000291539:p.Arg427Ile	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	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R427I	ENST00000291539.6	37	c.1280	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490141	0.64074	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	3.91	3.91	0.45181	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.157696	0.52532	D	0.000062	T	0.75110	0.3805	L	0.57130	1.785	0.80722	D	1	B;P;B;B;B;P;B;B;B;B;B;B;P;B;B;B	0.37122	0.156;0.55;0.156;0.079;0.133;0.583;0.149;0.079;0.036;0.079;0.156;0.247;0.583;0.379;0.156;0.263	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36418	0.067;0.181;0.106;0.067;0.13;0.164;0.101;0.079;0.023;0.05;0.067;0.106;0.224;0.106;0.067;0.126	T	0.80688	-0.1271	10	0.87932	D	0	.	16.4567	0.84019	0.0:0.0:1.0:0.0	.	299;360;341;326;401;386;319;367;210;267;293;299;325;374;300;427	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	I	367;299;427;374;360;326;341;401;325;386;293;267;299;300	ENSP00000335242:R367I;ENSP00000441899:R299I;ENSP00000291539:R427I;ENSP00000369685:R374I;ENSP00000381287:R360I;ENSP00000381289:R326I;ENSP00000381291:R341I;ENSP00000328699:R401I;ENSP00000335365:R325I;ENSP00000381281:R386I;ENSP00000381285:R293I;ENSP00000381283:R267I;ENSP00000344730:R299I;ENSP00000381280:R300I	ENSP00000291539:R427I	R	+	2	0	PDE9A	43058597	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	8.934000	0.92915	2.179000	0.69175	0.501000	0.49751	AGA	PDE9A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.438	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	G			44185528	+1	no_errors	ENST00000291539	ensembl	human	known	70_37	missense	SNP	0.983	T
PDSS1	23590	genome.wustl.edu	37	10	27009280	27009280	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:27009280G>A	ENST00000376215.5	+	6	654	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PDSS1_ENST00000376203.5_Missense_Mutation_p.E201K|RP13-16H11.5_ENST00000458171.1_RNA	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	201					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GATCTGGGGTGAAAAGAAGGT	0.363																																																	0													107.0	107.0	107.0					10																	27009280		2203	4300	6503	SO:0001583	missense	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.601G>A	10.37:g.27009280G>A	ENSP00000365388:p.Glu201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E201K	ENST00000376215.5	37	c.601	CCDS31168.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520553	0.85495	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.66815	-0.23;-0.23	5.59	5.59	0.84812	Terpenoid synthase (2);	0.043610	0.85682	N	0.000000	T	0.72684	0.3491	L	0.51914	1.62	0.80722	D	1	P;P	0.41313	0.745;0.647	P;P	0.48873	0.545;0.593	T	0.72161	-0.4374	10	0.52906	T	0.07	-17.678	19.9448	0.97177	0.0:0.0:1.0:0.0	.	201;201	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	K	201;201;162	ENSP00000365388:E201K;ENSP00000365376:E201K	ENSP00000365376:E201K	E	+	1	0	PDSS1	27049286	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.568000	0.98166	2.796000	0.96246	0.591000	0.81541	GAA	PDSS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.363	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS1	HGNC	protein_coding	OTTHUMT00000047276.1	G			27009280	+1	no_errors	ENST00000376215	ensembl	human	known	70_37	missense	SNP	1.000	A
PEAK1	79834	genome.wustl.edu	37	15	77473482	77473482	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:77473482C>T	ENST00000560626.2	-	4	1262	c.787G>A	c.(787-789)Gag>Aag	p.E263K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E263K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E263K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	263					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATGCGAATCTCCATGGCCAAC	0.483																																																	0													96.0	98.0	97.0					15																	77473482		2054	4202	6256	SO:0001583	missense	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.787G>A	15.37:g.77473482C>T	ENSP00000452796:p.Glu263Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E263K	ENST00000560626.2	37	c.787	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752649	0.89753	.	.	ENSG00000173517	ENST00000312493	T	0.74632	-0.86	5.29	5.29	0.74685	.	0.000000	0.34002	U	0.004358	T	0.75576	0.3868	L	0.27053	0.805	0.50171	D	0.999856	D	0.60575	0.988	P	0.54759	0.76	T	0.79174	-0.1912	10	0.72032	D	0.01	-8.6502	18.9539	0.92650	0.0:1.0:0.0:0.0	.	263	Q9H792	PEAK1_HUMAN	K	263	ENSP00000309230:E263K	ENSP00000309230:E263K	E	-	1	0	AC087465.1	75260537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.666000	0.83877	2.480000	0.83734	0.557000	0.71058	GAG	PEAK1	-	NULL		0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77473482	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	missense	SNP	1.000	T
PER2	8864	genome.wustl.edu	37	2	239161691	239161691	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:239161691G>A	ENST00000254657.3	-	19	3252	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	991	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCAGCAGGTTGAGCTGCAGGG	0.672																																																	0													34.0	38.0	37.0					2																	239161691		2203	4300	6503	SO:0001819	synonymous_variant	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2973C>T	2.37:g.239161691G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L991	ENST00000254657.3	37	c.2973	CCDS2528.1	2																																																																																			PER2	-	NULL		0.672	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	G	NM_022817		239161691	-1	no_errors	ENST00000254657	ensembl	human	known	70_37	silent	SNP	1.000	A
PGBD4	161779	genome.wustl.edu	37	15	34395013	34395013	+	Missense_Mutation	SNP	G	G	A	rs35595072	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:34395013G>A	ENST00000397766.2	+	1	740	c.281G>A	c.(280-282)aGa>aAa	p.R94K	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	94										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACACCTGGCAGAAAAGTCGAT	0.428																																																	0													53.0	50.0	51.0					15																	34395013		2201	4298	6499	SO:0001583	missense	161779			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.281G>A	15.37:g.34395013G>A	ENSP00000380872:p.Arg94Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.R94K	ENST00000397766.2	37	c.281	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	g	15.39	2.820345	0.50633	.	.	ENSG00000182405	ENST00000397766	T	0.16597	2.33	1.09	-0.145	0.13436	.	0.994655	0.08133	U	0.992810	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	P	0.38565	0.637	B	0.23018	0.043	T	0.32587	-0.9901	10	0.15499	T	0.54	.	5.0202	0.14358	0.0:0.0:0.3941:0.6059	rs35595072	94	Q96DM1	PGBD4_HUMAN	K	94	ENSP00000380872:R94K	ENSP00000380872:R94K	R	+	2	0	PGBD4	32182305	0.992000	0.36948	0.047000	0.18901	0.959000	0.62525	0.020000	0.13466	-0.026000	0.13895	0.298000	0.19748	AGA	PGBD4	-	NULL		0.428	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1	G			34395013	+1	no_errors	ENST00000397766	ensembl	human	known	70_37	missense	SNP	0.236	A
PHEX	5251	genome.wustl.edu	37	X	22112215	22112215	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:22112215G>A	ENST00000379374.4	+	7	1412	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.E186K|PHEX_ENST00000537599.1_Missense_Mutation_p.E283K	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	283					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAAGATAGCTGAGGTAAGTCT	0.368																																																	0													104.0	94.0	98.0					X																	22112215		2203	4300	6503	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.847G>A	X.37:g.22112215G>A	ENSP00000368682:p.Glu283Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E283K	ENST00000379374.4	37	c.847	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883505	0.51908	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.80738	-1.41;-1.41;-1.41	5.47	5.47	0.80525	Peptidase M13 (1);	0.099146	0.64402	D	0.000001	T	0.68403	0.2997	N	0.19112	0.55	0.80722	D	1	B;B	0.27013	0.138;0.166	B;B	0.24848	0.033;0.056	T	0.65590	-0.6131	10	0.31617	T	0.26	.	14.0271	0.64592	0.0:0.147:0.853:0.0	.	283;283	F5GXU4;P78562	.;PHEX_HUMAN	K	283;283;186	ENSP00000368682:E283K;ENSP00000440362:E283K;ENSP00000439418:E186K	ENSP00000368682:E283K	E	+	1	0	PHEX	22022136	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.933000	0.63484	2.287000	0.76781	0.436000	0.28706	GAG	PHEX	-	pfam_Peptidase_M13_N		0.368	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	G	NM_000444		22112215	+1	no_errors	ENST00000379374	ensembl	human	known	70_37	missense	SNP	1.000	A
PI4KA	5297	genome.wustl.edu	37	22	21075635	21075635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:21075635C>T	ENST00000572273.1	-	43	5123	c.4893G>A	c.(4891-4893)tgG>tgA	p.W1631*	PI4KA_ENST00000414196.3_Nonsense_Mutation_p.W441*|PI4KA_ENST00000255882.6_Nonsense_Mutation_p.W1689*|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1631	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTCATGTTCCAGATGAACT	0.507																																					GBM(136;1332 1831 3115 23601 50806)												0													147.0	131.0	136.0					22																	21075635		2203	4300	6503	SO:0001587	stop_gained	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4893G>A	22.37:g.21075635C>T	ENSP00000458238:p.Trp1631*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.W1689*	ENST00000572273.1	37	c.5067		22	.	.	.	.	.	.	.	.	.	.	C	41	8.587793	0.98875	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.76	18.5538	0.91075	0.0:1.0:0.0:0.0	.	.	.	.	X	1631;441;24	.	ENSP00000255882:W1631X	W	-	3	0	PI4KA	19405635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.627000	0.83176	2.389000	0.81357	0.591000	0.81541	TGG	PI4KA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21075635	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC25A22	79751	genome.wustl.edu	37	11	799341	799341	+	5'Flank	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:799341G>C	ENST00000320230.5	-	0	0				SLC25A22_ENST00000531214.1_5'Flank|PIDD_ENST00000347755.5_Missense_Mutation_p.S900W|PIDD_ENST00000411829.2_Missense_Mutation_p.S883W	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGAGCCGAGGAGCCAGG	0.662																																					Colon(93;848 1468 3270 23355 49636)												0													35.0	39.0	37.0					11																	799341		2199	4296	6495	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799341G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.S900W	ENST00000320230.5	37	c.2699	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772526	0.31411	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.46819	0.94;0.86	4.72	2.75	0.32379	.	1.157660	0.06720	N	0.774621	T	0.41396	0.1157	N	0.24115	0.695	0.09310	N	0.999998	D;D;D	0.58970	0.973;0.972;0.984	B;P;P	0.48815	0.387;0.591;0.591	T	0.29941	-0.9995	10	0.66056	D	0.02	.	6.6339	0.22872	0.101:0.1795:0.7195:0.0	.	900;743;883	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	883;900	ENSP00000416801:S883W;ENSP00000337797:S900W	ENSP00000337797:S900W	S	-	2	0	PIDD	789341	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.073000	0.11468	0.979000	0.38497	0.448000	0.29417	TCG	PIDD	-	NULL		0.662	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257107.2	G			799341	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	missense	SNP	0.000	C
PICALM	8301	genome.wustl.edu	37	11	85723350	85723350	+	Missense_Mutation	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:85723350T>C	ENST00000393346.3	-	6	780	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	PICALM_ENST00000356360.5_Missense_Mutation_p.Y211C|PICALM_ENST00000528398.1_Missense_Mutation_p.Y160C|PICALM_ENST00000532317.1_Missense_Mutation_p.Y211C|PICALM_ENST00000526033.1_Missense_Mutation_p.Y211C			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	211					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCCTTCATTGTATGCTGCAAA	0.343			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													120.0	113.0	116.0					11																	85723350		2203	4299	6502	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.632A>G	11.37:g.85723350T>C	ENSP00000377015:p.Tyr211Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Y211C	ENST00000393346.3	37	c.632	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425076	0.83667	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.13	5.13	0.70059	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.993;1.0	D;D;D;D	0.97110	0.938;1.0;0.937;0.995	T	0.69774	-0.5054	9	.	.	.	-8.4181	15.2313	0.73390	0.0:0.0:0.0:1.0	.	160;211;211;211	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	C	211;211;211;211;160;211;177	ENSP00000436958:Y211C;ENSP00000433846:Y211C;ENSP00000377015:Y211C;ENSP00000434884:Y160C;ENSP00000348718:Y211C;ENSP00000433303:Y177C	.	Y	-	2	0	PICALM	85400998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.934000	0.87649	2.051000	0.60960	0.383000	0.25322	TAC	PICALM	-	pfam_ANTH		0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	T	NM_007166		85723350	-1	no_errors	ENST00000393346	ensembl	human	known	70_37	missense	SNP	1.000	C
PIEZO2	63895	genome.wustl.edu	37	18	10762946	10762946	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:10762946C>G	ENST00000503781.3	-	20	3021	c.3022G>C	c.(3022-3024)Gag>Cag	p.E1008Q	PIEZO2_ENST00000302079.6_Missense_Mutation_p.E1008Q|PIEZO2_ENST00000383408.2_Missense_Mutation_p.E296Q|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E1033Q	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1008					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GAGAAGTTCTCAGGCTTAATG	0.512																																																	0													119.0	103.0	108.0					18																	10762946		692	1591	2283	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3022G>C	18.37:g.10762946C>G	ENSP00000421377:p.Glu1008Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.E1022Q	ENST00000503781.3	37	c.3064		18	.	.	.	.	.	.	.	.	.	.	C	9.591	1.126259	0.20959	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.42513	0.97;0.97	4.99	3.08	0.35506	.	1.161200	0.06104	N	0.665881	T	0.29749	0.0743	L	0.31065	0.9	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23976	-1.0173	10	0.13853	T	0.58	.	6.9136	0.24347	0.0:0.6799:0.1472:0.173	.	1033	Q9H5I5-4	.	Q	1008;296	ENSP00000303316:E1008Q;ENSP00000372900:E296Q	ENSP00000303316:E1008Q	E	-	1	0	FAM38B	10752946	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.520000	0.22878	1.115000	0.41800	0.563000	0.77884	GAG	PIEZO2	-	NULL		0.512	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10762946	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	missense	SNP	0.026	G
PIK3C2A	5286	genome.wustl.edu	37	11	17191131	17191131	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:17191131C>T	ENST00000265970.7	-	1	157	c.158G>A	c.(157-159)aGa>aAa	p.R53K	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	53	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTCAAAGCCTCTCTGATTGTC	0.403																																																	0													269.0	259.0	263.0					11																	17191131		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.158G>A	11.37:g.17191131C>T	ENSP00000265970:p.Arg53Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R53K	ENST00000265970.7	37	c.158	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	C	8.445	0.851664	0.17034	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	T	0.61627	0.09	5.52	2.43	0.29744	.	0.567543	0.19563	N	0.111299	T	0.33089	0.0851	N	0.24115	0.695	0.20307	N	0.999917	B;B	0.28933	0.228;0.022	B;B	0.27796	0.083;0.01	T	0.24799	-1.0150	10	0.05833	T	0.94	-9.6168	6.153	0.20322	0.0:0.5282:0.282:0.1898	.	53;53	F5H5W9;O00443	.;P3C2A_HUMAN	K	53	ENSP00000265970:R53K	ENSP00000265970:R53K	R	-	2	0	PIK3C2A	17147707	0.033000	0.19621	0.993000	0.49108	0.978000	0.69477	0.854000	0.27791	0.649000	0.30751	0.585000	0.79938	AGA	PIK3C2A	-	NULL		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	C	NM_002645		17191131	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	0.311	T
PIK3CB	5291	genome.wustl.edu	37	3	138383904	138383904	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:138383904C>T	ENST00000477593.1	-	19	2719	c.2646G>A	c.(2644-2646)ctG>ctA	p.L882L	PIK3CB_ENST00000289153.2_Silent_p.L882L|PIK3CB_ENST00000544716.1_Silent_p.L333L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	882	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAAGCCAGTTCAGAAGGGCAT	0.403																																																	0													82.0	78.0	79.0					3																	138383904		2203	4300	6503	SO:0001819	synonymous_variant	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2646G>A	3.37:g.138383904C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNF0|Q24JU2	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L882	ENST00000477593.1	37	c.2646	CCDS3104.1	3																																																																																			PIK3CB	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.403	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	C			138383904	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	silent	SNP	0.941	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CD	5293	genome.wustl.edu	37	1	9784991	9784991	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:9784991C>T	ENST00000377346.4	+	23	3189	c.2994C>T	c.(2992-2994)ctC>ctT	p.L998L	PIK3CD_ENST00000361110.2_Silent_p.L1022L|PIK3CD_ENST00000536656.1_Silent_p.L1022L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	998	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCCAGTATCTCAAGGTATGTG	0.627											OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44.0	42.0	42.0					1																	9784991		2203	4300	6503	SO:0001819	synonymous_variant	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2994C>T	1.37:g.9784991C>T		Somatic	659	WXS	Illumina HiSeq	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L1022	ENST00000377346.4	37	c.3066	CCDS104.1	1																																																																																			PIK3CD	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.627	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	C	NM_005026		9784991	+1	no_errors	ENST00000536656	ensembl	human	known	70_37	silent	SNP	1.000	T
PILRA	29992	genome.wustl.edu	37	7	99997555	99997555	+	3'UTR	SNP	G	G	C	rs368161926		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:99997555G>C	ENST00000198536.2	+	0	1149				PILRA_ENST00000350573.2_3'UTR|PILRA_ENST00000453419.1_Nonstop_Mutation_p.*227S|PILRA_ENST00000394000.2_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha						signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCAAGACTGAATGGTGAGg	0.567													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15407	0.0		0.0	False		,,,				2504	0.0																0								G	,,	1,4405	2.1+/-5.4	0,1,2202	75.0	73.0	74.0		,,	1.5	0.0	7		74	0,8600		0,0,4300	no	utr-3,utr-3,utr-3	PILRA	NM_013439.2,NM_178272.1,NM_178273.1	,,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,,	,,	99997555	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.*25G>C	7.37:g.99997555G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHI1	Nonstop_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.*227S	ENST00000198536.2	37	c.680	CCDS5691.1	7	.	.	.	.	.	.	.	.	.	.	G	3.061	-0.193288	0.06259	2.27E-4	0.0	ENSG00000085514	ENST00000453419	.	.	.	2.45	1.55	0.23275	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2037	0.15279	0.1694:0.0:0.8306:0.0	.	.	.	.	S	227	.	.	X	+	2	2	PILRA	99835491	.	.	0.005000	0.12908	0.001000	0.01503	.	.	0.607000	0.29982	-0.145000	0.13849	TGA	PILRA	-	NULL		0.567	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRA	HGNC	protein_coding	OTTHUMT00000339016.1	G	NM_013439		99997555	+1	no_errors	ENST00000453419	ensembl	human	novel	70_37	nonstop	SNP	0.006	C
PKHD1L1	93035	genome.wustl.edu	37	8	110461662	110461662	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110461662G>A	ENST00000378402.5	+	40	6225	c.6121G>A	c.(6121-6123)Gac>Aac	p.D2041N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2041	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTGCAATTGACAGGCTTAG	0.373										HNSCC(38;0.096)																																							0													66.0	64.0	64.0					8																	110461662		1831	4078	5909	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6121G>A	8.37:g.110461662G>A	ENSP00000367655:p.Asp2041Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D2041N	ENST00000378402.5	37	c.6121	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	0.919	-0.716606	0.03206	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	5.28	1.45	0.22620	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.140641	0.32314	N	0.006270	T	0.56187	0.1968	L	0.35288	1.05	0.09310	N	0.999999	B	0.06786	0.001	B	0.11329	0.006	T	0.32981	-0.9886	10	0.20046	T	0.44	.	5.5907	0.17299	0.2494:0.1459:0.6047:0.0	.	2041	Q86WI1	PKHL1_HUMAN	N	2041	ENSP00000367655:D2041N	ENSP00000367655:D2041N	D	+	1	0	PKHD1L1	110530838	0.719000	0.27986	0.024000	0.17045	0.125000	0.20455	0.943000	0.29030	0.229000	0.21039	-0.274000	0.10170	GAC	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110461662	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.133	A
PKHD1L1	93035	genome.wustl.edu	37	8	110530692	110530692	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110530692G>C	ENST00000378402.5	+	73	12090	c.11986G>C	c.(11986-11988)Gag>Cag	p.E3996Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3996					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTGAAATAGAGATTGGAGA	0.403										HNSCC(38;0.096)																																							0													55.0	53.0	53.0					8																	110530692		1858	4086	5944	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11986G>C	8.37:g.110530692G>C	ENSP00000367655:p.Glu3996Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.E3996Q	ENST00000378402.5	37	c.11986	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513630	0.44763	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87966	-2.32;-2.11	5.93	5.01	0.66863	.	0.053759	0.64402	D	0.000001	T	0.79131	0.4394	L	0.35644	1.08	0.30683	N	0.752099	P	0.36086	0.536	B	0.30029	0.11	T	0.78306	-0.2255	10	0.33940	T	0.23	.	12.6732	0.56878	0.0:0.2765:0.7234:0.0	.	3996	Q86WI1	PKHL1_HUMAN	Q	3996;924	ENSP00000367655:E3996Q;ENSP00000437376:E924Q	ENSP00000367655:E3996Q	E	+	1	0	PKHD1L1	110599868	1.000000	0.71417	0.968000	0.41197	0.291000	0.27294	4.240000	0.58701	2.798000	0.96311	0.655000	0.94253	GAG	PKHD1L1	-	NULL		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110530692	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	0.998	C
PLCH1	23007	genome.wustl.edu	37	3	155200421	155200421	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:155200421C>T	ENST00000340059.7	-	23	3417	c.3418G>A	c.(3418-3420)Ggt>Agt	p.G1140S	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.G1102S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1102S|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1102S|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1140					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCCTATTACCTTCCAGGTTC	0.448																																																	0													73.0	66.0	68.0					3																	155200421		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3418G>A	3.37:g.155200421C>T	ENSP00000345988:p.Gly1140Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G1140S	ENST00000340059.7	37	c.3418	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384754	0.42308	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.57	4.7	0.59300	.	1.350270	0.04190	N	0.328118	T	0.40247	0.1109	L	0.32530	0.975	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.39660	0.306;0.252	T	0.30090	-0.9990	10	0.49607	T	0.09	.	5.5818	0.17254	0.1696:0.6676:0.0:0.1628	.	1102;1140	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	S	1102;1140;1102;1102	ENSP00000417502:G1102S;ENSP00000345988:G1140S;ENSP00000335469:G1102S;ENSP00000412977:G1102S	ENSP00000335469:G1102S	G	-	1	0	PLCH1	156683115	0.000000	0.05858	0.002000	0.10522	0.055000	0.15305	0.326000	0.19646	1.356000	0.45884	0.591000	0.81541	GGT	PLCH1	-	NULL		0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155200421	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.001	T
PLCH1	23007	genome.wustl.edu	37	3	155203219	155203219	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:155203219C>T	ENST00000340059.7	-	22	2923	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K	PLCH1_ENST00000494598.1_Missense_Mutation_p.R955K|PLCH1_ENST00000460012.1_Missense_Mutation_p.R937K|PLCH1_ENST00000414191.1_Missense_Mutation_p.R937K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R937K|PLCH1_ENST00000447496.2_Missense_Mutation_p.R975K|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	975					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAAGGTTTCTGTCAACAGG	0.468																																																	0													126.0	123.0	124.0					3																	155203219		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2924G>A	3.37:g.155203219C>T	ENSP00000345988:p.Arg975Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R975K	ENST00000340059.7	37	c.2924	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	2.875	-0.233048	0.05983	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.27104	2.24;2.38;1.69;2.38;2.38;2.38	5.88	-5.06	0.02946	.	1.635140	0.03042	N	0.153471	T	0.08133	0.0203	N	0.00823	-1.155	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.47142	-0.9140	10	0.02654	T	1	.	15.4002	0.74834	0.0:0.5627:0.0:0.4373	.	937;975;975	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	K	955;937;975;975;937;937	ENSP00000419100:R955K;ENSP00000417502:R937K;ENSP00000402759:R975K;ENSP00000345988:R975K;ENSP00000335469:R937K;ENSP00000412977:R937K	ENSP00000335469:R937K	R	-	2	0	PLCH1	156685913	0.007000	0.16637	0.001000	0.08648	0.781000	0.44180	0.017000	0.13399	-1.243000	0.02519	-0.345000	0.07892	AGA	PLCH1	-	NULL		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155203219	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.007	T
PLEC	5339	genome.wustl.edu	37	8	145007171	145007171	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:145007171C>G	ENST00000322810.4	-	14	2107	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	PLEC_ENST00000436759.2_Missense_Mutation_p.Q536H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q495H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q487H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q513H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q477H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q532H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q509H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q509H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	646	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTGCACACTCTGCAGAGTCA	0.672																																																	0													16.0	20.0	19.0					8																	145007171		2000	4167	6167	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1938G>C	8.37:g.145007171C>G	ENSP00000323856:p.Gln646His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q646H	ENST00000322810.4	37	c.1938	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834638	0.32421	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.90504	-1.12;-1.11;-1.15;-1.15;-1.13;-1.12;-1.12;-1.12;-1.12;-2.68	5.12	4.22	0.49857	.	1.033120	0.07732	U	0.945446	D	0.86447	0.5935	L	0.36672	1.1	0.39188	D	0.962902	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.72027	-0.4414	10	0.18276	T	0.48	.	13.0453	0.58922	0.0:0.6907:0.3093:0.0	.	536;495;487;646;477;509;513;509	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	509;513;509;477;646;487;495;536;532;553	ENSP00000344848:Q509H;ENSP00000350277:Q513H;ENSP00000346602:Q509H;ENSP00000381756:Q477H;ENSP00000323856:Q646H;ENSP00000347044:Q487H;ENSP00000348702:Q495H;ENSP00000388180:Q536H;ENSP00000434583:Q532H;ENSP00000437303:Q553H	ENSP00000323856:Q646H	Q	-	3	2	PLEC	145079159	0.016000	0.18221	0.018000	0.16275	0.891000	0.51852	1.145000	0.31577	1.111000	0.41721	0.643000	0.83706	CAG	PLEC	-	NULL		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145007171	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.839	G
PLEKHA8	84725	genome.wustl.edu	37	7	30101579	30101579	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:30101579G>A	ENST00000449726.1	+	11	1515	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E389K|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E389K|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E389K	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	389	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGTGCTGCACGAAGTGGAGGC	0.473											OREG0017934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													64.0	60.0	62.0					7																	30101579		2203	4297	6500	SO:0001583	missense	84725			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1165G>A	7.37:g.30101579G>A	ENSP00000397947:p.Glu389Lys	Somatic	814	WXS	Illumina HiSeq	Phase_IV	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E389K	ENST00000449726.1	37	c.1165	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055487	0.75960	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.57	5.57	0.84162	Glycolipid transfer protein domain (3);	0.048785	0.85682	D	0.000000	D	0.84061	0.5389	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	0.993;0.994;0.999;1.0	P;P;D;D	0.76575	0.702;0.803;0.988;0.954	D	0.86300	0.1679	9	0.87932	D	0	-39.8026	18.1181	0.89563	0.0:0.0:1.0:0.0	.	389;389;389;389	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	K	389;389;389;389;415	.	ENSP00000258679:E389K	E	+	1	0	PLEKHA8	30068104	1.000000	0.71417	0.956000	0.39512	0.332000	0.28634	8.068000	0.89490	2.634000	0.89283	0.563000	0.77884	GAA	PLEKHA8	-	pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom		0.473	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		G	NM_032639		30101579	+1	no_errors	ENST00000449726	ensembl	human	known	70_37	missense	SNP	0.997	A
PLGLB2	5342	genome.wustl.edu	37	2	88047697	88047697	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:88047697C>T	ENST00000359481.4	+	1	92	c.25C>T	c.(25-27)Cta>Tta	p.L9L		NM_002665.4	NP_002656.1	Q02325	PLGB_HUMAN	plasminogen-like B2	9						extracellular region (GO:0005576)											AGTGGTTCTTCTACTTCTTTT	0.368																																																	0													2.0	1.0	1.0					2																	88047697		784	1608	2392	SO:0001819	synonymous_variant	5342			M86871, M93143	CCDS1999.1	2p11.2	2013-09-24	2005-03-31	2005-03-31	ENSG00000125551	ENSG00000125551			9073	protein-coding gene	gene with protein product			"""plasminogen pseudogene 1"""	PLGP1		1986355	Standard	NM_002665		Approved		uc002ssd.3	Q02325	OTTHUMG00000153273	ENST00000359481.4:c.25C>T	2.37:g.88047697C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q580R1	Silent	SNP	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	p.L9	ENST00000359481.4	37	c.25	CCDS1999.1	2																																																																																			PLGLB2	-	NULL		0.368	PLGLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB2	HGNC	protein_coding	OTTHUMT00000252605.2	C	NM_002665		88047697	+1	no_errors	ENST00000359481	ensembl	human	known	70_37	silent	SNP	0.982	T
PLIN4	729359	genome.wustl.edu	37	19	4513036	4513036	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:4513036C>T	ENST00000301286.3	-	3	893	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	298	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCATGGCACCAG	0.552																																																	0													9.0	6.0	7.0					19																	4513036		1653	3518	5171	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.894G>A	19.37:g.4513036C>T	ENSP00000301286:p.Met298Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.M298I	ENST00000301286.3	37	c.894	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994538	0.19043	.	.	ENSG00000167676	ENST00000301286	T	0.04454	3.62	4.58	1.15	0.20763	.	0.461691	0.20680	N	0.087678	T	0.02807	0.0084	L	0.31294	0.92	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.46830	-0.9163	10	0.07644	T	0.81	-9.5818	4.7391	0.13003	0.0:0.6208:0.1991:0.1801	.	298	Q96Q06	PLIN4_HUMAN	I	298	ENSP00000301286:M298I	ENSP00000301286:M298I	M	-	3	0	PLIN4	4464036	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.884000	0.04166	0.889000	0.36185	0.455000	0.32223	ATG	PLIN4	-	superfamily_Ankyrin_rpt-contain_dom		0.552	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4513036	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.000	T
PLVAP	83483	genome.wustl.edu	37	19	17471630	17471630	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17471630C>T	ENST00000252590.4	-	4	1252	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	397					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACTGGCATCATCGGCTGCG	0.547																																																	0													47.0	50.0	49.0					19																	17471630		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1191G>A	19.37:g.17471630C>T	ENSP00000252590:p.Met397Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.M397I	ENST00000252590.4	37	c.1191	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.832430	0.00579	.	.	ENSG00000130300	ENST00000252590	.	.	.	2.38	-4.77	0.03219	.	3.353040	0.01727	N	0.028657	T	0.16257	0.0391	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	9	0.16896	T	0.51	.	0.5826	0.00714	0.2433:0.2911:0.2508:0.2147	.	397	Q9BX97	PLVAP_HUMAN	I	397	.	ENSP00000252590:M397I	M	-	3	0	PLVAP	17332630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.942000	0.00329	-2.673000	0.00413	-3.532000	0.00032	ATG	PLVAP	-	pfam_PV-1		0.547	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	C	NM_031310		17471630	-1	no_errors	ENST00000252590	ensembl	human	known	70_37	missense	SNP	0.000	T
PLXNA2	5362	genome.wustl.edu	37	1	208390910	208390910	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:208390910C>T	ENST00000367033.3	-	2	1115	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	120	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAGAGTAGTCAATGATGAGC	0.582																																																	0													104.0	106.0	106.0					1																	208390910		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.358G>A	1.37:g.208390910C>T	ENSP00000356000:p.Asp120Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D120N	ENST00000367033.3	37	c.358	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.175912	0.94807	.	.	ENSG00000076356	ENST00000367033	T	0.05382	3.45	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00349	-1.1798	10	0.72032	D	0.01	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	174;120	O75051-2;O75051	.;PLXA2_HUMAN	N	120	ENSP00000356000:D120N	ENSP00000356000:D120N	D	-	1	0	PLXNA2	206457533	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.538000	0.82048	2.697000	0.92050	0.563000	0.77884	GAC	PLXNA2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	C	NM_025179		208390910	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXNB1	5364	genome.wustl.edu	37	3	48459641	48459641	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:48459641C>T	ENST00000358536.4	-	15	3450	c.3181G>A	c.(3181-3183)Gag>Aag	p.E1061K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1061K|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E878K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E878K|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1061					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACAGCCTCAGCCTCACCA	0.642																																																	0													67.0	47.0	54.0					3																	48459641		2202	4300	6502	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3181G>A	3.37:g.48459641C>T	ENSP00000351338:p.Glu1061Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1061K	ENST00000358536.4	37	c.3181	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682948	0.68157	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03181	4.02;4.03;4.02;4.03	5.59	5.59	0.84812	.	0.113114	0.39909	N	0.001230	T	0.04907	0.0132	L	0.43152	1.355	0.80722	D	1	P;B	0.51351	0.944;0.087	P;B	0.45310	0.476;0.084	T	0.53330	-0.8454	10	0.10902	T	0.67	.	11.9702	0.53060	0.0:0.9213:0.0:0.0787	.	1061;878	O43157;O43157-2	PLXB1_HUMAN;.	K	1061;878;1061;878	ENSP00000296440:E1061K;ENSP00000351242:E878K;ENSP00000351338:E1061K;ENSP00000414199:E878K	ENSP00000296440:E1061K	E	-	1	0	PLXNB1	48434645	0.510000	0.26171	0.995000	0.50966	0.987000	0.75469	2.833000	0.48159	2.642000	0.89623	0.561000	0.74099	GAG	PLXNB1	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.642	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48459641	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.994	T
PMEL	6490	genome.wustl.edu	37	12	56359789	56359789	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:56359789G>A	ENST00000548747.1	-	1	669	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	PMEL_ENST00000548689.1_Intron|RP11-973D8.4_ENST00000554022.1_RNA|CDK2_ENST00000266970.4_5'Flank|PMEL_ENST00000552882.1_Silent_p.L3L|CDK2_ENST00000354056.4_5'Flank|PMEL_ENST00000550447.1_Silent_p.L3L|CDK2_ENST00000440311.2_5'Flank|PMEL_ENST00000536427.1_Silent_p.L3L|PMEL_ENST00000360714.4_Silent_p.L3L|PMEL_ENST00000548493.1_Silent_p.L3L|PMEL_ENST00000550464.1_Silent_p.L3L|PMEL_ENST00000449260.2_Silent_p.L3L|CDK2_ENST00000553376.1_5'Flank|PMEL_ENST00000539511.1_Silent_p.L3L			P40967	PMEL_HUMAN	premelanosome protein	3					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTAGCACCAGATCCATTGTG	0.498																																																	0													266.0	225.0	239.0					12																	56359789		2203	4300	6503	SO:0001819	synonymous_variant	6490			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.7C>T	12.37:g.56359789G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.L3	ENST00000548747.1	37	c.7	CCDS8897.1	12																																																																																			PMEL	-	NULL		0.498	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	G	NM_006928		56359789	-1	no_errors	ENST00000360714	ensembl	human	known	70_37	silent	SNP	0.000	A
PML	5371	genome.wustl.edu	37	15	74290717	74290717	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:74290717G>A	ENST00000268058.3	+	2	598	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PML_ENST00000563500.1_Missense_Mutation_p.E168K|PML_ENST00000564428.1_Missense_Mutation_p.E168K|PML_ENST00000359928.4_Missense_Mutation_p.E168K|PML_ENST00000395135.3_Missense_Mutation_p.E168K|PML_ENST00000395132.2_Missense_Mutation_p.E168K|PML_ENST00000435786.2_Missense_Mutation_p.E168K|PML_ENST00000565898.1_Missense_Mutation_p.E168K|PML_ENST00000569965.1_Missense_Mutation_p.E168K|PML_ENST00000567543.1_Missense_Mutation_p.E168K|PML_ENST00000354026.6_Missense_Mutation_p.E168K|PML_ENST00000436891.3_Missense_Mutation_p.E168K|PML_ENST00000569477.1_Missense_Mutation_p.E168K|PML_ENST00000268059.6_Missense_Mutation_p.E168K	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	168					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCCCCTAGCAGAGCTGCGCAA	0.632			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													52.0	48.0	49.0					15																	74290717		2198	4297	6495	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.502G>A	15.37:g.74290717G>A	ENSP00000268058:p.Glu168Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E168K	ENST00000268058.3	37	c.502	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635282	0.67130	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.61	4.61	0.57282	.	0.207771	0.33457	N	0.004894	T	0.63271	0.2497	L	0.29908	0.895	0.33717	D	0.616551	B;P;P;P;P;D;D;D;D;D;D;B	0.76494	0.248;0.952;0.775;0.835;0.954;0.989;0.976;0.975;0.997;0.993;0.999;0.262	B;P;B;P;P;P;P;P;P;P;D;B	0.69142	0.265;0.606;0.312;0.653;0.804;0.725;0.707;0.728;0.904;0.858;0.962;0.135	T	0.71659	-0.4526	10	0.41790	T	0.15	-14.3639	14.1504	0.65381	0.0:0.0:1.0:0.0	.	118;168;168;168;168;168;168;168;168;168;168;171	Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	K	168	ENSP00000378567:E168K;ENSP00000395576:E168K;ENSP00000353004:E168K;ENSP00000394642:E168K;ENSP00000268058:E168K;ENSP00000378564:E168K;ENSP00000268059:E168K;ENSP00000315434:E168K	ENSP00000268058:E168K	E	+	1	0	PML	72077770	0.998000	0.40836	0.944000	0.38274	0.907000	0.53573	3.947000	0.56652	2.125000	0.65367	0.561000	0.74099	GAG	PML	-	NULL		0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74290717	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.992	A
PNRC1	10957	genome.wustl.edu	37	6	89790830	89790830	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:89790830C>T	ENST00000336032.3	+	1	334	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCCCAGCCTCGCGCTCCAGC	0.706										Multiple Myeloma(7;0.094)																																							0													12.0	14.0	13.0					6																	89790830		2200	4290	6490	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.217C>T	6.37:g.89790830C>T	ENSP00000336931:p.Arg73Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R73C	ENST00000336032.3	37	c.217	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080339	0.36662	.	.	ENSG00000146278	ENST00000336032	T	0.47528	0.84	4.93	4.05	0.47172	.	0.279283	0.29861	N	0.011018	T	0.38054	0.1026	L	0.44542	1.39	0.24876	N	0.992257	D;D	0.71674	0.998;0.998	P;P	0.59288	0.736;0.855	T	0.18178	-1.0345	10	0.59425	D	0.04	-2.6705	8.4979	0.33138	0.1526:0.7678:0.0:0.0796	.	73;73	Q12796;Q7Z5N0	PNRC1_HUMAN;.	C	73	ENSP00000336931:R73C	ENSP00000336931:R73C	R	+	1	0	PNRC1	89847549	0.978000	0.34361	0.056000	0.19401	0.028000	0.11728	3.073000	0.50057	1.276000	0.44395	0.555000	0.69702	CGC	PNRC1	-	NULL		0.706	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790830	+1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.115	T
POLR2C	5432	genome.wustl.edu	37	16	57496588	57496588	+	5'UTR	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:57496588C>A	ENST00000219252.5	+	0	290				AC009052.12_ENST00000567090.1_RNA|POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GCGGTGGCGCCGCGCAGTCAC	0.692											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10.0	9.0	9.0					16																	57496588		2167	4249	6416	SO:0001623	5_prime_UTR_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.-49C>A	16.37:g.57496588C>A		Somatic	1023	WXS	Illumina HiSeq	Phase_IV	O15161	RNA	SNP	-	NULL	ENST00000219252.5	37	NULL	CCDS10782.1	16																																																																																			POLR2C	-	-		0.692	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	C	NM_032940		57496588	+1	no_errors	ENST00000564651	ensembl	human	known	70_37	rna	SNP	0.000	A
POTEH	23784	genome.wustl.edu	37	22	16287817	16287817	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:16287817C>T	ENST00000343518.6	-	1	120	c.69G>A	c.(67-69)aaG>aaA	p.K23K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	23										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACTTGCCCATCTTGCTTCTGA	0.577																																																	0													63.0	79.0	74.0					22																	16287817		1938	3705	5643	SO:0001819	synonymous_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.69G>A	22.37:g.16287817C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K23	ENST00000343518.6	37	c.69	CCDS46658.1	22																																																																																			POTEH	-	NULL		0.577	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	C	NM_001136213		16287817	-1	no_errors	ENST00000343518	ensembl	human	known	70_37	silent	SNP	0.014	T
POU1F1	5449	genome.wustl.edu	37	3	87313556	87313556	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:87313556G>C	ENST00000350375.2	-	3	445	c.321C>G	c.(319-321)ttC>ttG	p.F107L	POU1F1_ENST00000560656.1_Missense_Mutation_p.F107L|POU1F1_ENST00000344265.3_Missense_Mutation_p.F133L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	107					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GTTCCTGCTTGAAATCAGCAG	0.433																																																	0													96.0	100.0	99.0					3																	87313556		2203	4300	6503	SO:0001583	missense	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.321C>G	3.37:g.87313556G>C	ENSP00000263781:p.Phe107Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.F133L	ENST00000350375.2	37	c.399	CCDS2919.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712450	0.68730	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.87966	-2.32;-2.3	5.79	2.55	0.30701	.	0.354898	0.36002	N	0.002847	D	0.89705	0.6792	M	0.62723	1.935	0.43924	D	0.99657	D;D	0.63880	0.993;0.969	D;D	0.77557	0.99;0.914	D	0.86011	0.1501	10	0.10111	T	0.7	.	10.9782	0.47478	0.2965:0.0:0.7035:0.0	.	133;107	P28069-2;P28069	.;PIT1_HUMAN	L	107;133	ENSP00000263781:F107L;ENSP00000342931:F133L	ENSP00000342931:F133L	F	-	3	2	POU1F1	87396246	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.614000	0.36911	0.765000	0.33221	0.655000	0.94253	TTC	POU1F1	-	NULL		0.433	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	HGNC	protein_coding	OTTHUMT00000352827.1	G	NM_000306		87313556	-1	no_errors	ENST00000344265	ensembl	human	known	70_37	missense	SNP	0.998	C
PPAP2B	8613	genome.wustl.edu	37	1	56989993	56989993	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:56989993C>G	ENST00000371250.3	-	3	1082	c.531G>C	c.(529-531)caG>caC	p.Q177H		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	177					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATCTGTAGTTCTGAATGTAGC	0.532																																																	0													138.0	135.0	136.0					1																	56989993		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.531G>C	1.37:g.56989993C>G	ENSP00000360296:p.Gln177His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.Q177H	ENST00000371250.3	37	c.531	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633454	0.67015	.	.	ENSG00000162407	ENST00000371250	T	0.32023	1.47	5.56	0.967	0.19674	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.301431	0.35838	N	0.002942	T	0.36826	0.0981	L	0.52759	1.655	0.40665	D	0.982162	P	0.45126	0.851	P	0.56343	0.796	T	0.13229	-1.0517	10	0.59425	D	0.04	.	4.7874	0.13232	0.0:0.4789:0.1471:0.374	.	177	O14495	LPP3_HUMAN	H	177	ENSP00000360296:Q177H	ENSP00000360296:Q177H	Q	-	3	2	PPAP2B	56762581	0.197000	0.23362	0.995000	0.50966	0.924000	0.55760	-0.335000	0.07873	-0.095000	0.12351	-0.140000	0.14226	CAG	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.532	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2	C	NM_003713		56989993	-1	no_errors	ENST00000371250	ensembl	human	known	70_37	missense	SNP	0.995	G
PPFIA3	8541	genome.wustl.edu	37	19	49632266	49632266	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:49632266G>C	ENST00000334186.4	+	4	853	c.504G>C	c.(502-504)gaG>gaC	p.E168D	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E168D	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	168					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCCTGGATGAGAAGGTATGAG	0.547																																																	0													38.0	41.0	40.0					19																	49632266		2203	4300	6503	SO:0001583	missense	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.504G>C	19.37:g.49632266G>C	ENSP00000335614:p.Glu168Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E168D	ENST00000334186.4	37	c.504	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614387	0.87359	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.53640	0.61	4.87	2.76	0.32466	.	0.000000	0.47852	D	0.000207	T	0.66157	0.2761	M	0.83603	2.65	0.48975	D	0.999732	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.995;0.999;0.998	T	0.68945	-0.5275	10	0.87932	D	0	-22.2021	8.0145	0.30372	0.2583:0.0:0.7417:0.0	.	92;168;168	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	D	168;92	ENSP00000335614:E168D	ENSP00000335614:E168D	E	+	3	2	PPFIA3	54324078	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.426000	0.34870	1.432000	0.47375	0.655000	0.94253	GAG	PPFIA3	-	NULL		0.547	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	G	NM_003660		49632266	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP2R5E	5529	genome.wustl.edu	37	14	63888774	63888774	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:63888774G>A	ENST00000337537.3	-	4	995	c.393C>T	c.(391-393)gaC>gaT	p.D131D	PPP2R5E_ENST00000422769.2_Silent_p.D55D|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.D131D	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	131					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATTCATTGCTGTCACTAGGAG	0.403																																																	0													150.0	129.0	136.0					14																	63888774		2203	4300	6503	SO:0001819	synonymous_variant	5529			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.393C>T	14.37:g.63888774G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D131	ENST00000337537.3	37	c.393	CCDS9758.1	14																																																																																			PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.403	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	G	NM_006246		63888774	-1	no_errors	ENST00000337537	ensembl	human	known	70_37	silent	SNP	1.000	A
PRDM2	7799	genome.wustl.edu	37	1	14105433	14105434	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:14105433_14105434CC>TT	ENST00000235372.7	+	8	1999_2000	c.1143_1144CC>TT	c.(1141-1146)atCCat>atTTat	p.H382Y	PRDM2_ENST00000413440.1_Missense_Mutation_p.H181Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H181Y|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.H382Y	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACATGCATATCCATATATCCAC	0.465																																																	0																																										SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	Exception_encountered	1.37:g.14105433_14105434delinsTT	ENSP00000235372:p.His382Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent|Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.I381|p.H382Y	ENST00000235372.7	37	c.1143|c.1144	CCDS150.1	1																																																																																			PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2		0.465	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	C	NM_012231		14105433|14105434	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent|missense	SNP	1.000	T
PRKD2	25865	genome.wustl.edu	37	19	47200444	47200444	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:47200444G>T	ENST00000291281.4	-	9	1512	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	PRKD2_ENST00000595515.1_Missense_Mutation_p.F429L|PRKD2_ENST00000433867.1_Missense_Mutation_p.F429L|PRKD2_ENST00000601806.1_Missense_Mutation_p.F272L|PRKD2_ENST00000600194.1_Missense_Mutation_p.F272L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	429	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGTTGTTCTGGAAGAGCGTGA	0.542																																																	0													155.0	127.0	137.0					19																	47200444		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1287C>A	19.37:g.47200444G>T	ENSP00000291281:p.Phe429Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F429L	ENST00000291281.4	37	c.1287	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	g	22.6	4.315987	0.81469	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.29917	1.55;1.55	4.64	3.6	0.41247	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.89904	3.07	0.53688	D	0.999975	B;B	0.20780	0.028;0.048	B;B	0.42995	0.312;0.404	T	0.55761	-0.8090	10	0.72032	D	0.01	-35.2405	8.4788	0.33030	0.1839:0.0:0.8161:0.0	.	429;429	E7ER94;Q9BZL6	.;KPCD2_HUMAN	L	429	ENSP00000291281:F429L;ENSP00000393978:F429L	ENSP00000291281:F429L	F	-	3	2	PRKD2	51892284	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.220000	0.65267	1.087000	0.41251	0.651000	0.88453	TTC	PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.542	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	G	NM_016457		47200444	-1	no_errors	ENST00000291281	ensembl	human	known	70_37	missense	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48694968	48694968	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:48694968C>T	ENST00000314191.2	-	80	11420	c.11364G>A	c.(11362-11364)agG>agA	p.R3788R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.R3788R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3789	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGCTATAGGTCCTCAGCTGCA	0.612								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													20.0	23.0	22.0					8																	48694968		2084	4205	6289	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11364G>A	8.37:g.48694968C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R3788	ENST00000314191.2	37	c.11364		8																																																																																			PRKDC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.612	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48694968	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.095	T
PRKDC	5591	genome.wustl.edu	37	8	48792189	48792189	+	Missense_Mutation	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:48792189T>C	ENST00000314191.2	-	40	5151	c.5095A>G	c.(5095-5097)Acc>Gcc	p.T1699A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.T1699A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1700					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTGAGGCTGGTGAAGAATGGA	0.468								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													30.0	32.0	31.0					8																	48792189		1987	4160	6147	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5095A>G	8.37:g.48792189T>C	ENSP00000313420:p.Thr1699Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T1699A	ENST00000314191.2	37	c.5095		8	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630724	0.46944	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.61274	0.12;0.12	5.87	4.7	0.59300	Armadillo-type fold (1);	0.056634	0.64402	D	0.000001	T	0.56615	0.1997	M	0.74881	2.28	0.53688	D	0.999973	P;P	0.41624	0.563;0.757	B;B	0.37601	0.254;0.254	T	0.60073	-0.7334	10	0.52906	T	0.07	.	12.4206	0.55518	0.126:0.0:0.0:0.874	.	1699;1700	E7EUY0;P78527	.;PRKDC_HUMAN	A	1699	ENSP00000313420:T1699A;ENSP00000345182:T1699A	ENSP00000313420:T1699A	T	-	1	0	PRKDC	48954742	1.000000	0.71417	0.984000	0.44739	0.554000	0.35429	4.773000	0.62331	1.021000	0.39600	0.477000	0.44152	ACC	PRKDC	-	superfamily_ARM-type_fold		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		T	NM_001081640		48792189	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PRMT6	55170	genome.wustl.edu	37	1	107599582	107599582	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:107599582G>A	ENST00000370078.1	+	1	282	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	PRMT6_ENST00000361318.5_Missense_Mutation_p.R23Q			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	82	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GCAGCACTGCGAGGCAAGACG	0.677																																																	0													34.0	41.0	39.0					1																	107599582		2049	4181	6230	SO:0001583	missense	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.245G>A	1.37:g.107599582G>A	ENSP00000359095:p.Arg82Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.R82Q	ENST00000370078.1	37	c.245	CCDS41360.2	1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898178	0.17686	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.22134	1.97;1.97	5.11	3.26	0.37387	.	0.240017	0.35870	N	0.002936	T	0.04815	0.0130	L	0.37630	1.12	0.29177	N	0.876735	P	0.38535	0.635	B	0.30855	0.121	T	0.25676	-1.0125	10	0.41790	T	0.15	-8.2462	6.9127	0.24344	0.2729:0.0:0.7271:0.0	.	82	Q96LA8	ANM6_HUMAN	Q	23;82	ENSP00000355145:R23Q;ENSP00000359095:R82Q	ENSP00000355145:R23Q	R	+	2	0	PRMT6	107401105	1.000000	0.71417	0.345000	0.25642	0.002000	0.02628	2.857000	0.48349	0.745000	0.32763	-0.277000	0.10078	CGA	PRMT6	-	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2		0.677	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	G	NM_018137		107599582	+1	no_errors	ENST00000370078	ensembl	human	known	70_37	missense	SNP	0.993	A
PROSC	11212	genome.wustl.edu	37	8	37620216	37620216	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:37620216C>T	ENST00000328195.3	+	1	106	c.39C>T	c.(37-39)gtC>gtT	p.V13V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	13					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGCTGGGAGTCGGGTGCGCAT	0.751																																																	0													15.0	16.0	15.0					8																	37620216		2181	4263	6444	SO:0001819	synonymous_variant	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.39C>T	8.37:g.37620216C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI94	Silent	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.V13	ENST00000328195.3	37	c.39	CCDS6096.1	8																																																																																			PROSC	-	pirsf_UPF0001		0.751	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	C	NM_007198		37620216	+1	no_errors	ENST00000328195	ensembl	human	known	70_37	silent	SNP	0.917	T
PRR22	163154	genome.wustl.edu	37	19	5783184	5783184	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:5783184G>A	ENST00000419421.2	-	3	1178	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	358										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CGAGCGCCTTGAAGTTGAAGA	0.632																																																	0													41.0	43.0	42.0					19																	5783184		2202	4297	6499	SO:0001819	synonymous_variant	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.1074C>T	19.37:g.5783184G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB31	Silent	SNP	NULL	p.F358	ENST00000419421.2	37	c.1074	CCDS45933.1	19																																																																																			PRR22	-	NULL		0.632	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	G	NM_153359		5783184	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	silent	SNP	1.000	A
PSG4	5672	genome.wustl.edu	37	19	43708314	43708314	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:43708314G>A	ENST00000405312.3	-	2	391	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	PSG4_ENST00000244295.9_Missense_Mutation_p.L52F|PSG4_ENST00000433626.2_Missense_Mutation_p.L52F	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	52	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACAAGTAGAAGAACATCCTTC	0.448																																																	0													161.0	174.0	169.0					19																	43708314		2144	4267	6411	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.154C>T	19.37:g.43708314G>A	ENSP00000384770:p.Leu52Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L52F	ENST00000405312.3	37	c.154	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	14.13	2.442359	0.43326	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	1.65	-1.09	0.09904	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78426	0.4281	M	0.83774	2.66	0.09310	N	1	D;D;B	0.89917	0.996;1.0;0.226	D;D;B	0.97110	0.993;1.0;0.363	T	0.65245	-0.6215	9	0.66056	D	0.02	.	5.797	0.18392	0.0:0.0:0.4527:0.5473	.	52;52;52	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	F	52;52;52;68	ENSP00000244295:L52F;ENSP00000384770:L52F;ENSP00000387864:L52F;ENSP00000388134:L68F	ENSP00000244295:L52F	L	-	1	0	PSG4	48400154	0.004000	0.15560	0.016000	0.15963	0.394000	0.30568	0.358000	0.20216	-0.154000	0.11118	0.173000	0.16961	CTT	PSG4	-	pfam_Ig_V-set,smart_Ig_sub		0.448	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	G	NM_213633		43708314	-1	no_errors	ENST00000405312	ensembl	human	known	70_37	missense	SNP	0.021	A
PRPF31	26121	genome.wustl.edu	37	19	54627905	54627905	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54627905C>T	ENST00000321030.4	+	8	1074	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PRPF31_ENST00000419967.1_Missense_Mutation_p.S242F|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.S242F	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	242	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCAACCTCTCCAAGATGCCC	0.642																																																	0													55.0	55.0	55.0					19																	54627905		2203	4300	6503	SO:0001583	missense	26121			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.725C>T	19.37:g.54627905C>T	ENSP00000324122:p.Ser242Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC	p.S242F	ENST00000321030.4	37	c.725	CCDS12879.1	19	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047126	0.93740	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.16	5.16	0.70880	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.992	D	0.94000	0.7274	10	0.87932	D	0	-24.5516	17.7971	0.88575	0.0:1.0:0.0:0.0	.	242;242	E7ESA8;Q8WWY3	.;PRP31_HUMAN	F	242	ENSP00000324122:S242F;ENSP00000395894:S242F;ENSP00000405166:S242F;ENSP00000408980:S242F;ENSP00000395089:S242F;ENSP00000375635:S242F	ENSP00000263436:S242F	S	+	2	0	PRPF31	59319717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.976000	0.76135	2.584000	0.87258	0.561000	0.74099	TCC	PRPF31	-	pfam_SnoRNA-bd_dom		0.642	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF31	HGNC	protein_coding	OTTHUMT00000141417.2	C			54627905	+1	no_errors	ENST00000321030	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMA3	5684	genome.wustl.edu	37	14	58737187	58737187	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:58737187C>T	ENST00000216455.4	+	9	732	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|PSMA3_ENST00000412908.2_Silent_p.L207L|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|PSMA3_ENST00000557508.1_Silent_p.L139L|RP11-349A22.5_ENST00000556225.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	214					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AACTAGAACTCAGCTGGGTTG	0.328																																																	0													142.0	140.0	140.0					14																	58737187		2203	4298	6501	SO:0001819	synonymous_variant	5684				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.642C>T	14.37:g.58737187C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.L214	ENST00000216455.4	37	c.642	CCDS9731.1	14																																																																																			PSMA3	-	pfam_Proteasome_sua/b		0.328	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	C	NM_002788		58737187	+1	no_errors	ENST00000216455	ensembl	human	known	70_37	silent	SNP	1.000	T
PSMB8	5696	genome.wustl.edu	37	6	32810552	32810552	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32810552G>A	ENST00000374882.3	-	3	354	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PSMB8_ENST00000374881.2_Missense_Mutation_p.R98W|PSMB8_ENST00000395339.3_Intron|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TTGTTCACCCGTAAGGCACCT	0.517																																					NSCLC(48;53 1172 10859 13624 22883)												0													72.0	69.0	70.0					6																	32810552		2203	4300	6503	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.304C>T	6.37:g.32810552G>A	ENSP00000364016:p.Arg102Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.R102W	ENST00000374882.3	37	c.304	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395673	0.83011	.	.	ENSG00000204264	ENST00000374882;ENST00000374881	T;T	0.23950	1.88;1.88	5.72	-5.04	0.02964	Proteasome, beta-type subunit, conserved site (1);	0.903747	0.09536	N	0.788939	T	0.13713	0.0332	L	0.48362	1.52	0.09310	N	1	D;D	0.65815	0.995;0.969	P;P	0.46940	0.532;0.447	T	0.16748	-1.0392	9	.	.	.	-3.6884	17.9296	0.88992	0.0:0.0:0.3107:0.6893	.	98;102	P28062-2;P28062	.;PSB8_HUMAN	W	102;98	ENSP00000364016:R102W;ENSP00000364015:R98W	.	R	-	1	2	PSMB8	32918530	0.000000	0.05858	0.000000	0.03702	0.706000	0.40770	-0.240000	0.08952	-0.922000	0.03789	0.551000	0.68910	CGG	PSMB8	-	pfam_Proteasome_sua/b		0.517	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	G	NM_148919		32810552	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	0.000	A
PTPRM	5797	genome.wustl.edu	37	18	8387204	8387204	+	Silent	SNP	C	C	T	rs376481019		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:8387204C>T	ENST00000332175.8	+	29	5177	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRM_ENST00000444013.1_Silent_p.G1167G|PTPRM_ENST00000400060.4_Silent_p.G1394G|PTPRM_ENST00000580170.1_Silent_p.G1393G|PTPRM_ENST00000400053.4_Silent_p.G1318G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTACAATGGCGGGGAAGGCC	0.552																																																	0								T	,	0,4406		0,0,2203	86.0	74.0	78.0		4179,4140	-9.6	0.0	18		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1393/1466,1380/1453	8387204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4140C>T	18.37:g.8387204C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G1394	ENST00000332175.8	37	c.4182	CCDS11840.1	18																																																																																			PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.552	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	C			8387204	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	silent	SNP	0.001	T
PTPRN	5798	genome.wustl.edu	37	2	220172265	220172265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:220172265G>A	ENST00000295718.2	-	3	421	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q61*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	61					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACCTGGCACTGCCCAAACAAG	0.557																																																	0													53.0	54.0	53.0					2																	220172265		2203	4300	6503	SO:0001587	stop_gained	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.181C>T	2.37:g.220172265G>A	ENSP00000295718:p.Gln61*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q61*	ENST00000295718.2	37	c.181	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.068072	0.93950	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	61;61;61;61;28	.	ENSP00000295718:Q61X	Q	-	1	0	PTPRN	219880509	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAG	PTPRN	-	NULL		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	G			220172265	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PTPRS	5802	genome.wustl.edu	37	19	5243946	5243946	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:5243946G>C	ENST00000587303.1	-	10	1635	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L	PTPRS_ENST00000262963.6_Silent_p.L508L|PTPRS_ENST00000588012.1_Silent_p.L499L|PTPRS_ENST00000592099.1_Silent_p.L499L|PTPRS_ENST00000348075.2_Silent_p.L499L|PTPRS_ENST00000353284.2_Silent_p.L499L|PTPRS_ENST00000372412.4_Silent_p.L513L|PTPRS_ENST00000357368.4_Silent_p.L512L|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	512	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGGGGTCCGAGAGGGGCCCGT	0.697																																																	0													27.0	24.0	25.0					19																	5243946		2203	4298	6501	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1536C>G	19.37:g.5243946G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.L513	ENST00000587303.1	37	c.1539	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5243946	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	0.996	C
PUSL1	126789	genome.wustl.edu	37	1	1246426	1246426	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:1246426C>G	ENST00000379031.5	+	7	914	c.837C>G	c.(835-837)ctC>ctG	p.L279L	CPSF3L_ENST00000462432.1_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	279					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTATTCCTCAAGTCAGTGC	0.602																																																	0													61.0	66.0	65.0					1																	1246426		2203	4295	6498	SO:0001819	synonymous_variant	126789			AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.837C>G	1.37:g.1246426C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP76|Q5TA41	Silent	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA	p.L279	ENST00000379031.5	37	c.837	CCDS20.1	1																																																																																			PUSL1	-	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA		0.602	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUSL1	HGNC	protein_coding	OTTHUMT00000009438.1	C	NM_153339		1246426	+1	no_errors	ENST00000379031	ensembl	human	known	70_37	silent	SNP	0.037	G
QSER1	79832	genome.wustl.edu	37	11	32948716	32948716	+	5'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:32948716G>A	ENST00000399302.2	+	0	171				QSER1_ENST00000527250.1_3'UTR|QSER1_ENST00000527788.1_5'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAGCTATGAAGAAGGACATCC	0.408																																																	0																																										SO:0001623	5_prime_UTR_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.-165G>A	11.37:g.32948716G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU30|Q6ZUR5	RNA	SNP	-	NULL	ENST00000399302.2	37	NULL	CCDS41631.1	11																																																																																			QSER1	-	-		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	G	NM_024774		32948716	+1	no_errors	ENST00000527250	ensembl	human	known	70_37	rna	SNP	1.000	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37730596	37730596	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:37730596G>C	ENST00000330843.4	-	4	1736	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	575	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGAGGGGACAGATGCCTGGCC	0.557																																																	0													69.0	61.0	64.0					8																	37730596		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1724C>G	8.37:g.37730596G>C	ENSP00000331342:p.Ser575Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S575C	ENST00000330843.4	37	c.1724	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683112	0.47991	.	.	ENSG00000156675	ENST00000330843	T	0.15372	2.43	6.07	1.25	0.21368	.	0.392356	0.21894	N	0.067548	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	0.999999	B	0.29805	0.257	B	0.30179	0.112	T	0.24476	-1.0159	10	0.87932	D	0	-2.8007	2.6791	0.05088	0.204:0.1254:0.5407:0.1299	.	575	Q6WKZ4	RFIP1_HUMAN	C	575	ENSP00000331342:S575C	ENSP00000331342:S575C	S	-	2	0	RAB11FIP1	37849754	0.627000	0.27129	0.000000	0.03702	0.606000	0.37113	1.765000	0.38481	-0.046000	0.13446	0.655000	0.94253	TCT	RAB11FIP1	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	G	NM_025151		37730596	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	0.001	C
RAB19	401409	genome.wustl.edu	37	7	140111670	140111670	+	Intron	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:140111670C>G	ENST00000356407.3	+	2	269				RAB19_ENST00000537763.1_Intron|RAB19_ENST00000275874.5_Silent_p.L113L			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CTGTCCTTCTCCAGATGCAGG	0.537																																																	0													86.0	75.0	79.0					7																	140111670		2203	4300	6503	SO:0001627	intron_variant	401409				CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.202-4C>G	7.37:g.140111670C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L113	ENST00000356407.3	37	c.339	CCDS34762.2	7																																																																																			RAB19	-	pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.537	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB19	HGNC	protein_coding	OTTHUMT00000348740.1	C			140111670	+1	no_errors	ENST00000275874	ensembl	human	known	70_37	silent	SNP	0.000	G
RABEP1	9135	genome.wustl.edu	37	17	5257750	5257750	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5257750C>G	ENST00000546142.2	+	8	1247	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	RABEP1_ENST00000262477.6_Missense_Mutation_p.Q354E|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q354E|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q311E|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q354E			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	354					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGCTTTAACTCAAGAAGAATC	0.323																																																	0													116.0	110.0	112.0					17																	5257750		1837	4080	5917	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1060C>G	17.37:g.5257750C>G	ENSP00000437701:p.Gln354Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.Q354E	ENST00000546142.2	37	c.1060	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195415	0.38806	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.44881	0.92;0.92;0.92;0.92;0.91	5.11	5.11	0.69529	.	0.726896	0.13840	N	0.359122	T	0.23094	0.0558	N	0.08118	0	0.33689	D	0.613091	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.001;0.002	B;B;B;B;B	0.11329	0.006;0.004;0.002;0.002;0.006	T	0.04017	-1.0984	10	0.02654	T	1	-0.7837	16.235	0.82365	0.0:1.0:0.0:0.0	.	311;311;347;354;354	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	E	354;354;347;354;354;311	ENSP00000262477:Q354E;ENSP00000386150:Q354E;ENSP00000437701:Q354E;ENSP00000339569:Q354E;ENSP00000445408:Q311E	ENSP00000262477:Q354E	Q	+	1	0	RABEP1	5198474	0.977000	0.34250	1.000000	0.80357	0.999000	0.98932	4.656000	0.61483	2.832000	0.97577	0.655000	0.94253	CAA	RABEP1	-	NULL		0.323	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	C	NM_004703		5257750	+1	no_errors	ENST00000262477	ensembl	human	known	70_37	missense	SNP	1.000	G
RAD17	5884	genome.wustl.edu	37	5	68680719	68680719	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:68680719G>A	ENST00000509734.1	+	7	1315	c.637G>A	c.(637-639)Gga>Aga	p.G213R	RAD17_ENST00000380774.3_Missense_Mutation_p.G213R|RAD17_ENST00000358030.2_Missense_Mutation_p.G37R|RAD17_ENST00000361732.2_Missense_Mutation_p.G202R|RAD17_ENST00000521422.1_Missense_Mutation_p.G37R|RAD17_ENST00000305138.4_Missense_Mutation_p.G202R|RAD17_ENST00000345306.6_Missense_Mutation_p.G202R|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.G202R|RAD17_ENST00000282891.6_Missense_Mutation_p.G116R|RAD17_ENST00000354868.5_Missense_Mutation_p.G202R			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	213					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		ACAAATGCTTGGAGATGATCT	0.328								Other conserved DNA damage response genes																																									0													62.0	63.0	63.0					5																	68680719		2203	4299	6502	SO:0001583	missense	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.637G>A	5.37:g.68680719G>A	ENSP00000426191:p.Gly213Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	tigrfam_Checkpoint_prot_Rad24_fun/met	p.G213R	ENST00000509734.1	37	c.637	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673161	0.88445	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000512785;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.05	5.05	0.67936	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.78165	-0.2310	10	0.66056	D	0.02	-20.5606	17.5415	0.87849	0.0:0.0:1.0:0.0	.	213;116;202	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	R	202;213;202;37;202;202;37;202;116;37;213	ENSP00000355226:G202R;ENSP00000426191:G213R;ENSP00000346938:G202R;ENSP00000427743:G37R;ENSP00000346271:G202R;ENSP00000311227:G202R;ENSP00000427673:G37R;ENSP00000303134:G202R;ENSP00000282891:G116R;ENSP00000350725:G37R;ENSP00000370151:G213R	ENSP00000282891:G116R	G	+	1	0	RAD17	68716475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.953000	0.87836	2.512000	0.84698	0.305000	0.20034	GGA	RAD17	-	tigrfam_Checkpoint_prot_Rad24_fun/met		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1	G	NM_133344		68680719	+1	no_errors	ENST00000380774	ensembl	human	known	70_37	missense	SNP	1.000	A
RALGAPA2	57186	genome.wustl.edu	37	20	20491928	20491928	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:20491928C>G	ENST00000202677.7	-	33	4905	c.4898G>C	c.(4897-4899)aGa>aCa	p.R1633T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1633					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTCAGCTCTCTCAATAATTT	0.333																																																	0													32.0	29.0	30.0					20																	20491928		1785	4055	5840	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4898G>C	20.37:g.20491928C>G	ENSP00000202677:p.Arg1633Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R1633T	ENST00000202677.7	37	c.4898	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.865863|4.865863	0.91511|0.91511	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.94280	.|-3.39;-3.39	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97480|0.97480	0.9175|0.9175	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.87578	.|0.954;0.998;0.992	D|D	0.97919|0.97919	1.0313|1.0313	5|10	.|0.87932	.|D	.|0	.|.	19.6984|19.6984	0.96043|0.96043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1471;1633;1633	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	Q|T	1450;44|63;1633	.|ENSP00000408332:R63T;ENSP00000202677:R1633T	.|ENSP00000202677:R1633T	E|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20439928|20439928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.764000|7.764000	0.85297|0.85297	2.658000|2.658000	0.90341|0.90341	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RALGAPA2	-	NULL		0.333	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20491928	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	G
RAP2C	57826	genome.wustl.edu	37	X	131351094	131351094	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:131351094C>G	ENST00000342983.2	-	2	949	c.203G>C	c.(202-204)aGa>aCa	p.R68T	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.R68T|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	68					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GTAGAGATCTCTCATGGAGGC	0.448																																																	0													110.0	105.0	107.0					X																	131351094		2203	4300	6503	SO:0001583	missense	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.203G>C	X.37:g.131351094C>G	ENSP00000340274:p.Arg68Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R68T	ENST00000342983.2	37	c.203	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	c	31	5.093981	0.94149	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.79845	-1.31;-1.31	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	L	0.52206	1.635	0.58432	D	0.99999	D	0.89917	1.0	D	0.76071	0.987	D	0.88765	0.3260	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	68	Q9Y3L5	RAP2C_HUMAN	T	68	ENSP00000340274:R68T;ENSP00000359911:R68T	ENSP00000340274:R68T	R	-	2	0	RAP2C	131178775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.236000	0.73375	0.502000	0.49764	AGA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.448	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	C	NM_021183		131351094	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	missense	SNP	1.000	G
RAP2C	57826	genome.wustl.edu	37	X	131351137	131351137	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:131351137C>T	ENST00000342983.2	-	2	906	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E54K|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	54					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TCCAGAATTTCCAGCACGGAG	0.468																																																	0													117.0	112.0	114.0					X																	131351137		2203	4300	6503	SO:0001583	missense	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.160G>A	X.37:g.131351137C>T	ENSP00000340274:p.Glu54Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E54K	ENST00000342983.2	37	c.160	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.704155	0.96812	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.77358	-1.09;-1.09	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91752	0.5413	10	0.87932	D	0	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	54	Q9Y3L5	RAP2C_HUMAN	K	54	ENSP00000340274:E54K;ENSP00000359911:E54K	ENSP00000340274:E54K	E	-	1	0	RAP2C	131178818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.677000	0.84024	2.236000	0.73375	0.502000	0.49764	GAA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.468	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	C	NM_021183		131351137	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	missense	SNP	1.000	T
RAPGEF4	11069	genome.wustl.edu	37	2	173881101	173881101	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:173881101G>A	ENST00000397081.3	+	19	1977	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D392N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D468N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D612N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D459N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D441N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D611N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D459N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	612	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGTATCAGATGATGCCCGGAT	0.438																																																	0													116.0	115.0	116.0					2																	173881101		1889	4108	5997	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1834G>A	2.37:g.173881101G>A	ENSP00000380271:p.Asp612Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D612N	ENST00000397081.3	37	c.1834	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305989	0.81247	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	6.04	6.04	0.98038	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.092702	0.64402	D	0.000001	T	0.46171	0.1379	M	0.75615	2.305	0.80722	D	1	P;B	0.50528	0.936;0.002	P;B	0.48425	0.577;0.007	T	0.34054	-0.9844	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:0.0:1.0:0.0	.	468;612	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	N	611;612;612;468;441;459;459;392	ENSP00000264111:D611N;ENSP00000380271:D612N;ENSP00000387104:D612N;ENSP00000380276:D468N;ENSP00000440135:D441N;ENSP00000440250:D459N;ENSP00000437384:D459N;ENSP00000438011:D392N	ENSP00000264111:D611N	D	+	1	0	RAPGEF4	173589347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.873000	0.98535	0.561000	0.74099	GAT	RAPGEF4	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	G	NM_007023		173881101	+1	no_errors	ENST00000397081	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA3	22821	genome.wustl.edu	37	13	114773065	114773065	+	Silent	SNP	C	C	T	rs557790275		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		21135	0.001		0.0	False		,,,				2504	0.0																0													114.0	94.0	101.0					13																	114773065		2201	4298	6499	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1686G>A	13.37:g.114773065C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.S562	ENST00000334062.7	37	c.1686	CCDS32016.1	13																																																																																			RASA3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.552	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114773065	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	silent	SNP	0.453	T
RASGRF2	5924	genome.wustl.edu	37	5	80256695	80256695	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:80256695C>T	ENST00000265080.4	+	1	205	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	46	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGTTCGCCCTCTACCAGAATG	0.657																																																	0													33.0	35.0	34.0					5																	80256695		2202	4300	6502	SO:0001819	synonymous_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.138C>T	5.37:g.80256695C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L46	ENST00000265080.4	37	c.138	CCDS4052.1	5																																																																																			RASGRF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.657	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	C	NM_006909		80256695	+1	no_errors	ENST00000265080	ensembl	human	known	70_37	silent	SNP	1.000	T
RASGRP4	115727	genome.wustl.edu	37	19	38912755	38912755	+	Missense_Mutation	SNP	C	C	T	rs376854073		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:38912755C>T	ENST00000587738.1	-	2	132	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	RASGRP4_ENST00000433821.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R21Q|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R21Q|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R21Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R21Q			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R21Q(1)|p.R21L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCGGCCTCGCCCTCCTAT	0.617																																																	2	Substitution - Missense(2)	lung(2)						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3903		0,1,1951	36.0	44.0	41.0		62,62,62,62,62,62,62	1.9	0.7	19		41	0,8268		0,0,4134	no	missense,missense,missense,missense,missense,missense,missense	RASGRP4	NM_001146202.1,NM_001146203.1,NM_001146204.1,NM_001146205.1,NM_001146206.1,NM_001146207.1,NM_170604.2	43,43,43,43,43,43,43	0,1,6085	TT,TC,CC		0.0,0.0256,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/660,21/582,21/605,21/640,21/485,21/577,21/674	38912755	1,12171	1952	4134	6086	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.62G>A	19.37:g.38912755C>T	ENSP00000465772:p.Arg21Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R21Q	ENST00000587738.1	37	c.62	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309642	0.23821	2.56E-4	0.0	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.06	1.85	0.25348	Ras guanine nucleotide exchange factor, domain (1);	0.770535	0.11194	N	0.589583	T	0.22704	0.0548	M	0.64997	1.995	0.09310	N	1	B;B;P;B;P;B;B	0.38195	0.024;0.013;0.622;0.07;0.552;0.139;0.07	B;B;B;B;B;B;B	0.22753	0.002;0.001;0.041;0.003;0.026;0.018;0.003	T	0.26224	-1.0109	10	0.87932	D	0	-11.0923	4.1614	0.10285	0.1864:0.6248:0.0:0.1888	.	21;21;21;21;21;21;21	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	Q	21	ENSP00000411878:R21Q;ENSP00000293062:R21Q;ENSP00000445966:R21Q;ENSP00000416463:R21Q	ENSP00000293062:R21Q	R	-	2	0	RASGRP4	43604595	0.029000	0.19370	0.748000	0.31131	0.122000	0.20287	0.293000	0.19029	0.468000	0.27243	0.455000	0.32223	CGA	RASGRP4	-	superfamily_Ras_GEF_dom		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38912755	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.072	T
RB1	5925	genome.wustl.edu	37	13	49030426	49030426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:49030426C>A	ENST00000267163.4	+	19	2039	c.1901C>A	c.(1900-1902)tCa>tAa	p.S634*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	634	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.S634*(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAAGCAACCTCAGCCTTCCAG	0.368		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|liver(1)	GRCh37	CM961233	RB1	M							87.0	84.0	85.0					13																	49030426		2203	4300	6503	SO:0001587	stop_gained	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1901C>A	13.37:g.49030426C>A	ENSP00000267163:p.Ser634*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.S634*	ENST00000267163.4	37	c.1901	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.352462	0.97498	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	5.97	0.96955	.	0.352176	0.27008	N	0.021389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3407	0.49531	0.0:0.8768:0.0:0.1232	.	.	.	.	X	613;634	.	ENSP00000267163:S634X	S	+	2	0	RB1	47928427	0.325000	0.24660	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	2.820000	0.97059	0.655000	0.94253	TCA	RB1	-	NULL		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			49030426	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53570327	53570327	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:53570327C>T	ENST00000025008.5	-	15	2585	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E688K|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E688K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	688					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GATAATTCTTCTAAGGGACAA	0.403																																					GBM(180;1701 2102 13475 42023 52570)												0													99.0	101.0	100.0					8																	53570327		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2062G>A	8.37:g.53570327C>T	ENSP00000025008:p.Glu688Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.E688K	ENST00000025008.5	37	c.2062	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669068	0.88348	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.27720	1.66;1.65;1.65	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.34675	-0.9819	10	0.46703	T	0.11	-20.7941	19.6708	0.95911	0.0:1.0:0.0:0.0	.	688;688	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	K	688	ENSP00000025008:E688K;ENSP00000396067:E688K;ENSP00000445960:E688K	ENSP00000025008:E688K	E	-	1	0	RB1CC1	53732880	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.442000	0.80503	2.709000	0.92574	0.655000	0.94253	GAA	RB1CC1	-	NULL		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53570327	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	missense	SNP	1.000	T
RBL1	5933	genome.wustl.edu	37	20	35661206	35661206	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:35661206C>A	ENST00000373664.3	-	16	2310	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N	RBL1_ENST00000344359.3_Missense_Mutation_p.K748N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	748	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATACAGGACTCTTGACTTTGG	0.388																																																	0													188.0	169.0	176.0					20																	35661206		2203	4300	6503	SO:0001583	missense	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2244G>T	20.37:g.35661206C>A	ENSP00000362768:p.Lys748Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.K748N	ENST00000373664.3	37	c.2244	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	8.997	0.979251	0.18812	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92699	-2.86;-3.09	5.3	2.29	0.28610	.	0.154081	0.44285	D	0.000469	T	0.80396	0.4615	N	0.14661	0.345	0.24732	N	0.993084	B;B	0.13145	0.007;0.001	B;B	0.17722	0.019;0.013	T	0.63941	-0.6523	10	0.17832	T	0.49	-25.1933	4.7987	0.13284	0.0:0.4601:0.2978:0.242	.	748;748	P28749-2;P28749	.;RBL1_HUMAN	N	748	ENSP00000362768:K748N;ENSP00000343646:K748N	ENSP00000343646:K748N	K	-	3	2	RBL1	35094620	0.705000	0.27846	0.976000	0.42696	0.997000	0.91878	-0.192000	0.09587	0.376000	0.24707	0.650000	0.86243	AAG	RBL1	-	NULL		0.388	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	C	NM_002895		35661206	-1	no_errors	ENST00000373664	ensembl	human	known	70_37	missense	SNP	0.996	A
RBM10	8241	genome.wustl.edu	37	X	47041164	47041164	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47041164C>T	ENST00000377604.3	+	15	2334	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	RBM10_ENST00000329236.7_Missense_Mutation_p.S453L|RBM10_ENST00000345781.6_Missense_Mutation_p.S454L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	531					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCATCATGTCACCCGCTGTG	0.607																																					Melanoma(171;120 2705 19495 39241)												0													50.0	43.0	45.0					X																	47041164		2203	4300	6503	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1592C>T	X.37:g.47041164C>T	ENSP00000366829:p.Ser531Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S531L	ENST00000377604.3	37	c.1592	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792234	0.70452	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.19394	2.84;2.15;2.42	4.56	4.56	0.56223	.	0.000000	0.42964	D	0.000634	T	0.35653	0.0939	L	0.44542	1.39	0.36787	D	0.884623	P;P;D;D;P	0.61080	0.903;0.956;0.989;0.989;0.808	B;B;D;D;B	0.75020	0.31;0.366;0.978;0.985;0.281	T	0.31336	-0.9947	10	0.51188	T	0.08	-6.7779	11.7477	0.51830	0.0:1.0:0.0:0.0	.	454;596;530;453;531	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	L	531;453;454	ENSP00000366829:S531L;ENSP00000328848:S453L;ENSP00000329659:S454L	ENSP00000328848:S453L	S	+	2	0	RBM10	46926108	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.851000	0.55926	2.255000	0.74692	0.525000	0.51046	TCA	RBM10	-	NULL		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	C	NM_005676		47041164	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM4B	83759	genome.wustl.edu	37	11	66444408	66444408	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:66444408G>A	ENST00000525754.1	-	1	811	c.143C>T	c.(142-144)gCt>gTt	p.A48V	RBM4B_ENST00000524637.1_Missense_Mutation_p.A48V|RBM4B_ENST00000531969.1_Missense_Mutation_p.A48V|RBM4B_ENST00000531036.2_Missense_Mutation_p.A48V|RBM4B_ENST00000310046.4_Missense_Mutation_p.A48V			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	48	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GGCATCCTCAGCTGCCGTCTT	0.478																																																	0													131.0	124.0	126.0					11																	66444408		2199	4276	6475	SO:0001583	missense	83759			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.143C>T	11.37:g.66444408G>A	ENSP00000433071:p.Ala48Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT83	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.A48V	ENST00000525754.1	37	c.143	CCDS8149.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259563	0.80246	.	.	ENSG00000173914	ENST00000525754;ENST00000310046;ENST00000531969;ENST00000524637	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	L	0.60904	1.88	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.89686	0.3894	10	0.59425	D	0.04	.	18.547	0.91050	0.0:0.0:1.0:0.0	.	48	Q9BQ04	RBM4B_HUMAN	V	48	ENSP00000433071:A48V;ENSP00000310471:A48V;ENSP00000435239:A48V;ENSP00000433113:A48V	ENSP00000310471:A48V	A	-	2	0	RBM4B	66200984	1.000000	0.71417	0.992000	0.48379	0.166000	0.22503	7.933000	0.87642	2.694000	0.91930	0.555000	0.69702	GCT	RBM4B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.478	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	G	NM_031492		66444408	-1	no_errors	ENST00000310046	ensembl	human	known	70_37	missense	SNP	1.000	A
REPS2	9185	genome.wustl.edu	37	X	17092270	17092270	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:17092270G>A	ENST00000357277.3	+	12	1538	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	REPS2_ENST00000380064.4_Intron|REPS2_ENST00000303843.7_Missense_Mutation_p.R455K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	456					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCAAAGCAAGACCAAGATCC	0.433																																																	0													224.0	181.0	196.0					X																	17092270		2203	4300	6503	SO:0001583	missense	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1367G>A	X.37:g.17092270G>A	ENSP00000349824:p.Arg456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R456K	ENST00000357277.3	37	c.1367	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947718	0.53186	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.32023	1.47;1.47	5.39	4.53	0.55603	.	0.153934	0.43416	D	0.000579	T	0.36826	0.0981	M	0.72118	2.19	0.80722	D	1	P;P	0.51351	0.663;0.944	B;P	0.49085	0.285;0.6	T	0.39057	-0.9632	10	0.05833	T	0.94	-11.8604	13.1505	0.59486	0.0806:0.0:0.9194:0.0	.	455;456	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	K	456;456;455	ENSP00000349824:R456K;ENSP00000306033:R455K	ENSP00000306033:R455K	R	+	2	0	REPS2	17002191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.043000	0.71004	1.043000	0.40175	0.600000	0.82982	AGA	REPS2	-	NULL		0.433	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	G	NM_004726		17092270	+1	no_errors	ENST00000357277	ensembl	human	known	70_37	missense	SNP	1.000	A
RBMX	27316	genome.wustl.edu	37	X	135955584	135955584	+	IGR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:135955584G>A	ENST00000320676.7	-	0	2012				RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCAAAAATTTGAAACAGTAAG	0.353																																																	0																																										SO:0001628	intergenic_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517		X.37:g.135955584G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	RNA	SNP	-	NULL	ENST00000320676.7	37	NULL	CCDS14661.1	X																																																																																			RBMX	-	-		0.353	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	G	NM_002139		135955584	-1	no_errors	ENST00000496459	ensembl	human	known	70_37	rna	SNP	1.000	A
REV1	51455	genome.wustl.edu	37	2	100040681	100040681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:100040681G>A	ENST00000258428.3	-	10	1837	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Nonsense_Mutation_p.Q536*	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	537	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAACAGCTTGAAGATTAGGA	0.383								Direct reversal of damage																																									0													163.0	144.0	151.0					2																	100040681		2203	4300	6503	SO:0001587	stop_gained	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1609C>T	2.37:g.100040681G>A	ENSP00000258428:p.Gln537*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Nonsense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.Q537*	ENST00000258428.3	37	c.1609	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.041047	0.98624	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	.	.	.	5.67	5.67	0.87782	.	0.180201	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9546	0.89064	0.0:0.0:1.0:0.0	.	.	.	.	X	536;537	.	ENSP00000258428:Q537X	Q	-	1	0	REV1	99407113	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.864000	0.87037	2.673000	0.90976	0.557000	0.71058	CAA	REV1	-	pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	G	NM_016316		100040681	-1	no_errors	ENST00000258428	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RHOH	399	genome.wustl.edu	37	4	40245542	40245542	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:40245542G>C	ENST00000381799.5	+	3	1260	c.536G>C	c.(535-537)aGa>aCa	p.R179T	RHOH_ENST00000505618.1_Missense_Mutation_p.R179T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	179					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGACGAAACAGAAGGAGGCTC	0.527																																																	0													32.0	32.0	32.0					4																	40245542		2203	4300	6503	SO:0001583	missense	399			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.536G>C	4.37:g.40245542G>C	ENSP00000371219:p.Arg179Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R179T	ENST00000381799.5	37	c.536	CCDS3458.1	4	.	.	.	.	.	.	.	.	.	.	g	17.33	3.363437	0.61513	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.64991	-0.13;-0.13	6.03	6.03	0.97812	.	1.318270	0.05064	N	0.480348	T	0.72708	0.3494	N	0.17082	0.46	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.65084	-0.6254	10	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	179	Q15669	RHOH_HUMAN	T	179	ENSP00000425010:R179T;ENSP00000371219:R179T	ENSP00000371219:R179T	R	+	2	0	RHOH	39921937	1.000000	0.71417	0.992000	0.48379	0.080000	0.17528	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	AGA	RHOH	-	NULL		0.527	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOH	HGNC	protein_coding	OTTHUMT00000216820.3	G	NM_004310		40245542	+1	no_errors	ENST00000381799	ensembl	human	known	70_37	missense	SNP	1.000	C
RIF1	55183	genome.wustl.edu	37	2	152273185	152273185	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:152273185G>A	ENST00000243326.5	+	4	874	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	RIF1_ENST00000433166.2_Missense_Mutation_p.E131K|RIF1_ENST00000453091.2_Missense_Mutation_p.E131K|RIF1_ENST00000444746.2_Missense_Mutation_p.E131K|RIF1_ENST00000428287.2_Missense_Mutation_p.E131K|RIF1_ENST00000430328.2_Missense_Mutation_p.E131K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTTCCCTCTGAAGTGGTTGG	0.338																																																	0													233.0	248.0	243.0					2																	152273185		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.391G>A	2.37:g.152273185G>A	ENSP00000243326:p.Glu131Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.E131K	ENST00000243326.5	37	c.391	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411718	0.62399	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;0.75;-0.38;-0.38	5.76	5.76	0.90799	Armadillo-type fold (1);	0.323056	0.38272	N	0.001755	T	0.80491	0.4633	M	0.71581	2.175	0.43355	D	0.995423	B;D	0.71674	0.145;0.998	B;D	0.65323	0.069;0.934	T	0.80039	-0.1549	10	0.52906	T	0.07	-9.8156	18.1155	0.89553	0.0:0.0:1.0:0.0	.	131;131	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	K	131	ENSP00000390181:E131K;ENSP00000414615:E131K;ENSP00000415691:E131K;ENSP00000396865:E131K;ENSP00000243326:E131K;ENSP00000416123:E131K	ENSP00000243326:E131K	E	+	1	0	RIF1	151981431	1.000000	0.71417	0.451000	0.26982	0.358000	0.29455	7.064000	0.76721	2.880000	0.98712	0.650000	0.86243	GAA	RIF1	-	superfamily_ARM-type_fold		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	G			152273185	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	missense	SNP	0.998	A
RIT1	6016	genome.wustl.edu	37	1	155870325	155870325	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:155870325C>T	ENST00000368323.3	-	6	718	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RIT1_ENST00000539040.1_Missense_Mutation_p.D136N|RIT1_ENST00000368322.3_Missense_Mutation_p.D189N	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	172					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			AAAACATCATCAATATAGTAG	0.448																																																	0													207.0	202.0	204.0					1																	155870325		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.514G>A	1.37:g.155870325C>T	ENSP00000357306:p.Asp172Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D172N	ENST00000368323.3	37	c.514	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964486	0.92791	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76448	-1.02;-1.02;-1.02	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.20530	0.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75769	-0.3201	10	0.33141	T	0.24	.	19.6495	0.95795	0.0:1.0:0.0:0.0	.	172	Q92963	RIT1_HUMAN	N	172;136;189	ENSP00000357306:D172N;ENSP00000441950:D136N;ENSP00000357305:D189N	ENSP00000357305:D189N	D	-	1	0	RIT1	154136949	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.557000	0.73937	2.746000	0.94184	0.591000	0.81541	GAT	RIT1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.448	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155870325	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF148	378925	genome.wustl.edu	37	7	122342331	122342331	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:122342331C>G	ENST00000434824.1	-	1	690	c.474G>C	c.(472-474)ctG>ctC	p.L158L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Silent_p.L60L	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	158	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CCATGCCTTTCAGGTTGCTTA	0.453																																																	0													269.0	267.0	268.0					7																	122342331		2041	4182	6223	SO:0001819	synonymous_variant	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.474G>C	7.37:g.122342331C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0X4|Q8N308	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L158	ENST00000434824.1	37	c.474	CCDS47692.1	7																																																																																			RNF148	-	pfam_Protease-assoc_domain		0.453	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	C	NM_198085		122342331	-1	no_errors	ENST00000434824	ensembl	human	known	70_37	silent	SNP	0.996	G
RNF17	56163	genome.wustl.edu	37	13	25338448	25338448	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:25338448G>A	ENST00000255324.5	+	1	159	c.107G>A	c.(106-108)gGa>gAa	p.G36E	RNF17_ENST00000381921.1_Missense_Mutation_p.G36E|RNF17_ENST00000255325.6_Missense_Mutation_p.G36E|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	36					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCAGGTGTGGAAGGAGGGTA	0.652																																																	0													44.0	33.0	37.0					13																	25338448		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.107G>A	13.37:g.25338448G>A	ENSP00000255324:p.Gly36Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.G36E	ENST00000255324.5	37	c.107	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781441	0.49891	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85629	-2.01;-2.01;-2.01	4.4	1.7	0.24286	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.380544	0.19770	N	0.106448	D	0.83899	0.5354	L	0.32530	0.975	0.22803	N	0.998713	P;P;D	0.76494	0.949;0.949;0.999	P;P;D	0.64595	0.554;0.554;0.927	T	0.73030	-0.4111	10	0.87932	D	0	.	4.3598	0.11196	0.2089:0.1875:0.6036:0.0	.	36;36;36	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	E	36	ENSP00000255324:G36E;ENSP00000371346:G36E;ENSP00000255325:G36E	ENSP00000255324:G36E	G	+	2	0	RNF17	24236448	0.758000	0.28405	0.317000	0.25265	0.134000	0.20937	0.704000	0.25661	0.141000	0.18875	0.511000	0.50034	GGA	RNF17	-	pfscan_Znf_RING		0.652	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	G	NM_031994		25338448	+1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.539	A
RNF8	9025	genome.wustl.edu	37	6	37321864	37321864	+	5'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:37321864G>A	ENST00000373479.4	+	0	117				RNF8_ENST00000394443.4_5'UTR|RNF8_ENST00000469731.1_5'Flank|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TATGGAAGCTGAGGGGATGCA	0.642																																																	0																																										SO:0001623	5_prime_UTR_variant	9025			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.-77G>A	6.37:g.37321864G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	RNA	SNP	-	NULL	ENST00000373479.4	37	NULL	CCDS4834.1	6																																																																																			RNF8	-	-		0.642	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	HGNC	protein_coding	OTTHUMT00000040403.2	G			37321864	+1	no_errors	ENST00000479516	ensembl	human	known	70_37	rna	SNP	0.000	A
RP1	6101	genome.wustl.edu	37	8	55542413	55542413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:55542413C>T	ENST00000220676.1	+	4	6119	c.5971C>T	c.(5971-5973)Cag>Tag	p.Q1991*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1991					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATATTTGATCAGTTTTATTT	0.294																																					Colon(91;1014 1389 7634 14542 40420)												0													52.0	57.0	56.0					8																	55542413		2194	4297	6491	SO:0001587	stop_gained	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5971C>T	8.37:g.55542413C>T	ENSP00000220676:p.Gln1991*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1991*	ENST00000220676.1	37	c.5971	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.868085	0.98534	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.81	-3.0	0.05480	.	1.124050	0.07067	N	0.834783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	1.5176	0.02509	0.3846:0.2921:0.2025:0.1208	.	.	.	.	X	1991	.	ENSP00000220676:Q1991X	Q	+	1	0	RP1	55704966	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.055000	0.11807	-0.292000	0.08999	-0.967000	0.02615	CAG	RP1	-	NULL		0.294	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	C	NM_006269		55542413	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	nonsense	SNP	0.000	T
RPGRIP1	57096	genome.wustl.edu	37	14	21780626	21780626	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:21780626G>A	ENST00000400017.2	+	9	1112	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R344Q|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R371Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R344Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	371					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAAAAGAACGAAAATTGCTG	0.373																																																	0													59.0	55.0	56.0					14																	21780626		1836	4092	5928	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1112G>A	14.37:g.21780626G>A	ENSP00000382895:p.Arg371Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R371Q	ENST00000400017.2	37	c.1112	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698602	0.68501	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.80738	-0.46;-1.41;-1.35;-1.39	4.79	4.79	0.61399	.	0.126644	0.51477	D	0.000092	T	0.77698	0.4169	M	0.77103	2.36	0.80722	D	1	P	0.42248	0.774	B	0.31337	0.128	T	0.81280	-0.1004	10	0.46703	T	0.11	-3.1759	15.2106	0.73222	0.0:0.0:1.0:0.0	.	371	Q96KN7	RPGR1_HUMAN	Q	344;344;371;371	ENSP00000450445:R344Q;ENSP00000451219:R344Q;ENSP00000382895:R371Q;ENSP00000206660:R371Q	ENSP00000206660:R371Q	R	+	2	0	RPGRIP1	20850466	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.561000	0.45905	2.646000	0.89796	0.563000	0.77884	CGA	RPGRIP1	-	NULL		0.373	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21780626	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL14	9045	genome.wustl.edu	37	3	40503459	40503459	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:40503459G>A	ENST00000396203.2	+	6	516	c.384G>A	c.(382-384)aaG>aaA	p.K128K	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Silent_p.K128K	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	128					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATGAAGTTAAGAAGCTTCAAA	0.388																																																	0													24.0	27.0	26.0					3																	40503459		2176	4234	6410	SO:0001819	synonymous_variant	9045			D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"""L ribosomal proteins"""	10305	protein-coding gene	gene with protein product	"""CAG-ISL 7"", ""60S ribosomal protein L14"""					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.384G>A	3.37:g.40503459G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Silent	SNP	pfam_Ribosomal_L14	p.K128	ENST00000396203.2	37	c.384	CCDS43070.1	3																																																																																			RPL14	-	NULL		0.388	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL14	HGNC	protein_coding	OTTHUMT00000342889.2	G	NM_003973		40503459	+1	no_errors	ENST00000338970	ensembl	human	known	70_37	silent	SNP	1.000	A
RPL7L1	285855	genome.wustl.edu	37	6	42853756	42853756	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:42853756G>C	ENST00000493763.1	+	5	770	c.467G>C	c.(466-468)gGa>gCa	p.G156A	RPL7L1_ENST00000602561.1_Missense_Mutation_p.G156A|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.G156A|RPL7L1_ENST00000424341.2_Intron	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	156						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TTGAAACGTGGACAAGCCAAG	0.468																																																	0													72.0	75.0	74.0					6																	42853756		2203	4298	6501	SO:0001583	missense	285855				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.467G>C	6.37:g.42853756G>C	ENSP00000418221:p.Gly156Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.G156A	ENST00000493763.1	37	c.467	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.388526	0.95988	.	.	ENSG00000146223	ENST00000493763;ENST00000304734	.	.	.	5.87	5.87	0.94306	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.82823	2.61	0.80722	D	1	D	0.67145	0.996	P	0.60415	0.874	T	0.78006	-0.2373	9	0.72032	D	0.01	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	156	Q6DKI1	RL7L_HUMAN	A	156	.	ENSP00000346063:G156A	G	+	2	0	RPL7L1	42961734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.304000	0.96190	2.941000	0.99782	0.655000	0.94253	GGA	RPL7L1	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.468	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	G	XM_209769		42853756	+1	no_errors	ENST00000304734	ensembl	human	known	70_37	missense	SNP	1.000	C
RPS19	6223	genome.wustl.edu	37	19	42364896	42364896	+	Missense_Mutation	SNP	C	C	G	rs138366744		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:42364896C>G	ENST00000598742.1	+	2	424	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	RPS19_ENST00000593863.1_Missense_Mutation_p.L18V|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	18			L -> P (in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit). {ECO:0000269|PubMed:11112378}.|L -> R (in DBA1). {ECO:0000269|PubMed:15384984}.|LA -> E (in DBA1).		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CGTCAGAGCTCTGGCAGCCTT	0.557									Diamond-Blackfan Anemia																																								0													127.0	128.0	127.0					19																	42364896		2203	4300	6503	SO:0001583	missense	6223	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.52C>G	19.37:g.42364896C>G	ENSP00000470972:p.Leu18Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S19e	p.L18V	ENST00000598742.1	37	c.52	CCDS12588.1	19	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241539	0.58995	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.49795	0.1578	L	0.42581	1.335	0.58432	D	0.999999	B	0.30889	0.299	B	0.33121	0.158	T	0.42849	-0.9427	9	0.16896	T	0.51	-12.794	15.585	0.76475	0.0:1.0:0.0:0.0	.	18	P39019	RS19_HUMAN	V	18	.	ENSP00000221975:L18V	L	+	1	2	RPS19	47056736	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.187000	0.50950	2.476000	0.83614	0.655000	0.94253	CTG	RPS19	-	pfam_Ribosomal_S19e		0.557	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	C	NM_001022		42364896	+1	no_errors	ENST00000593863	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS5	6193	genome.wustl.edu	37	19	58904758	58904758	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58904758C>G	ENST00000596046.1	+	3	1200	c.351C>G	c.(349-351)atC>atG	p.I117M	RPS5_ENST00000601521.1_Missense_Mutation_p.I117M|RPS5_ENST00000598495.1_Missense_Mutation_p.I138M|RPS5_ENST00000598098.1_Missense_Mutation_p.I47M|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000196551.3_Missense_Mutation_p.I117M			P46782	RS5_HUMAN	ribosomal protein S5	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		ACGCCATCATCAACAGTGGTC	0.597																																																	0													113.0	92.0	99.0					19																	58904758		2203	4300	6503	SO:0001583	missense	6193			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.351C>G	19.37:g.58904758C>G	ENSP00000472985:p.Ile117Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.I117M	ENST00000596046.1	37	c.351	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447256	0.43429	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	3.75	0.43078	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.82630	2.6	0.58432	D	0.999999	P	0.52061	0.95	D	0.63033	0.91	T	0.79829	-0.1638	9	0.87932	D	0	-25.5841	11.0404	0.47827	0.0:0.9076:0.0:0.0924	.	117	P46782	RS5_HUMAN	M	117	.	ENSP00000196551:I117M	I	+	3	3	RPS5	63596570	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.483000	0.45233	1.165000	0.42670	0.655000	0.94253	ATC	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc		0.597	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	C	NM_001009		58904758	+1	no_errors	ENST00000196551	ensembl	human	known	70_37	missense	SNP	1.000	G
RSPH10B	222967	genome.wustl.edu	37	7	5967906	5967906	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:5967906C>G	ENST00000405415.1	-	19	2739	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.E785Q|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E785Q|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E785Q			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	785										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CTTATTTTCTCCTTGATAGCT	0.473																																																	0													156.0	141.0	146.0					7																	5967906		2200	4297	6497	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2353G>C	7.37:g.5967906C>G	ENSP00000385443:p.Glu785Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E785Q	ENST00000405415.1	37	c.2353	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	6.273	0.418506	0.11870	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.79	2.97	0.34412	.	0.633514	0.13589	N	0.376749	T	0.47563	0.1452	L	0.41961	1.31	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.38001	-0.9681	10	0.51188	T	0.08	.	8.0291	0.30454	0.0:0.7529:0.1595:0.0876	.	785	P0C881	R10B1_HUMAN	Q	785	ENSP00000385443:E785Q;ENSP00000384097:E785Q;ENSP00000338556:E785Q;ENSP00000400988:E785Q	ENSP00000338556:E785Q	E	-	1	0	RSPH10B	5934432	1.000000	0.71417	0.980000	0.43619	0.002000	0.02628	1.041000	0.30291	0.579000	0.29504	-0.926000	0.02714	GAG	RSPH10B	-	NULL		0.473	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	HGNC	protein_coding	OTTHUMT00000325465.2	C	NM_173565		5967906	-1	no_errors	ENST00000337579	ensembl	human	known	70_37	missense	SNP	1.000	G
RSPH10B2	728194	genome.wustl.edu	37	7	6836318	6836318	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:6836318G>C	ENST00000403107.1	+	19	2740	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	CCZ1B_ENST00000597208.1_Intron|RSPH10B2_ENST00000359718.3_3'UTR|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E785Q|RSPH10B2_ENST00000463354.2_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	785										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AGCTATCAAGGAGAAAATAAG	0.478																																																	0													74.0	73.0	73.0					7																	6836318		1815	3801	5616	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2353G>C	7.37:g.6836318G>C	ENSP00000384766:p.Glu785Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E785Q	ENST00000403107.1	37	c.2353	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830716	0.32329	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	2.94	2.94	0.34122	.	0.633514	0.13589	N	0.376749	T	0.48040	0.1478	L	0.41961	1.31	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.49943	-0.8885	10	0.51188	T	0.08	.	9.5156	0.39104	0.0:0.0:1.0:0.0	.	785	B2RC85	R10B2_HUMAN	Q	785	ENSP00000384766:E785Q;ENSP00000386102:E785Q;ENSP00000297186:E785Q;ENSP00000416710:E785Q	ENSP00000297186:E785Q	E	+	1	0	RSPH10B2	6802843	1.000000	0.71417	0.750000	0.31169	0.221000	0.24807	1.449000	0.35123	1.627000	0.50400	0.187000	0.17357	GAG	RSPH10B2	-	NULL		0.478	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	G	NM_001099697		6836318	+1	no_errors	ENST00000297186	ensembl	human	known	70_37	missense	SNP	0.943	C
SATB1	6304	genome.wustl.edu	37	3	18427918	18427918	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:18427918G>C	ENST00000338745.6	-	8	3126	c.1392C>G	c.(1390-1392)atC>atG	p.I464M	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.I464M|SATB1_ENST00000417717.2_Missense_Mutation_p.I464M	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	464					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGGTGTGCTGATGAGGGGGG	0.507																																																	0													158.0	169.0	165.0					3																	18427918		2203	4300	6503	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1392C>G	3.37:g.18427918G>C	ENSP00000341024:p.Ile464Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.I464M	ENST00000338745.6	37	c.1392	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	T	4.624	0.116072	0.08831	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.48201	0.82;0.82;0.82	6.17	0.897	0.19258	.	0.129075	0.64402	D	0.000001	T	0.44644	0.1303	N	0.19112	0.55	0.80722	D	1	D;P	0.64830	0.994;0.894	D;P	0.64877	0.93;0.454	T	0.28332	-1.0047	10	0.45353	T	0.12	-10.4875	7.1104	0.25386	0.0:0.125:0.3518:0.5232	.	464;464	Q01826-2;Q01826	.;SATB1_HUMAN	M	464	ENSP00000341024:I464M;ENSP00000399708:I464M;ENSP00000399518:I464M	ENSP00000341024:I464M	I	-	3	3	SATB1	18402922	1.000000	0.71417	0.998000	0.56505	0.355000	0.29361	0.508000	0.22692	-0.024000	0.13941	-1.131000	0.01979	ATC	SATB1	-	NULL		0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	G	NM_001131010		18427918	-1	no_errors	ENST00000338745	ensembl	human	known	70_37	missense	SNP	0.993	C
SACM1L	22908	genome.wustl.edu	37	3	45751043	45751043	+	Silent	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:45751043T>C	ENST00000389061.5	+	5	591	c.387T>C	c.(385-387)gaT>gaC	p.D129D	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Silent_p.D68D|SACM1L_ENST00000418611.1_Silent_p.D26D	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TGAATGTGGATGGATTTTACT	0.348																																																	0													126.0	121.0	122.0					3																	45751043		2203	4300	6503	SO:0001819	synonymous_variant	22908			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.387T>C	3.37:g.45751043T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.D129	ENST00000389061.5	37	c.387	CCDS33745.1	3																																																																																			SACM1L	-	pfam_Syja_N,pfscan_Syja_N		0.348	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACM1L	HGNC	protein_coding	OTTHUMT00000345065.2	T	NM_014016		45751043	+1	no_errors	ENST00000389061	ensembl	human	known	70_37	silent	SNP	1.000	C
SBNO1	55206	genome.wustl.edu	37	12	123804981	123804981	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:123804981C>T	ENST00000602398.1	-	19	2792	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	SBNO1_ENST00000602750.1_Missense_Mutation_p.E888K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E889K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E888K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	889			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)			p.E888K(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTATTTACCTCAGCAACGTTC	0.398																																																	2	Substitution - Missense(2)	breast(2)											99.0	99.0	99.0					12																	123804981		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2665G>A	12.37:g.123804981C>T	ENSP00000473665:p.Glu889Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.E889K	ENST00000602398.1	37	c.2665	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.768338	0.96914	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.61627	0.09;0.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	H	0.95950	3.745	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	D	0.88852	0.3320	10	0.72032	D	0.01	-26.9781	19.8879	0.96917	0.0:1.0:0.0:0.0	.	889;888	A3KN83;A3KN83-2	SBNO1_HUMAN;.	K	889;888	ENSP00000387361:E889K;ENSP00000267176:E888K	ENSP00000267176:E888K	E	-	1	0	SBNO1	122370934	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.740000	0.84986	2.693000	0.91896	0.655000	0.94253	GAG	SBNO1	-	NULL		0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123804981	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T
SBNO2	22904	genome.wustl.edu	37	19	1119067	1119067	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:1119067G>A	ENST00000361757.3	-	14	1707	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	SBNO2_ENST00000587024.1_Silent_p.I490I|SBNO2_ENST00000438103.2_Silent_p.I433I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	490					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCTCCTCGATGCGGAAGG	0.677																																																	0													31.0	41.0	38.0					19																	1119067		2193	4286	6479	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1470C>T	19.37:g.1119067G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	NULL	p.I490	ENST00000361757.3	37	c.1470	CCDS45894.1	19																																																																																			SBNO2	-	NULL		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1119067	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	silent	SNP	0.868	A
SCD5	79966	genome.wustl.edu	37	4	83719652	83719652	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:83719652G>A	ENST00000319540.4	-	1	358	c.39C>T	c.(37-39)ttC>ttT	p.F13F	SCD5_ENST00000282709.4_Silent_p.F13F|SCD5_ENST00000273908.4_Silent_p.F13F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	13					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGCGTCGCAGAAAGGGATCT	0.736																																																	0													16.0	17.0	17.0					4																	83719652		2201	4291	6492	SO:0001819	synonymous_variant	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.39C>T	4.37:g.83719652G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.F13	ENST00000319540.4	37	c.39	CCDS34024.1	4																																																																																			SCD5	-	NULL		0.736	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	G	NM_024906		83719652	-1	no_errors	ENST00000319540	ensembl	human	known	70_37	silent	SNP	0.018	A
SCN3A	6328	genome.wustl.edu	37	2	166027044	166027044	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:166027044C>T	ENST00000360093.3	-	4	770	c.279G>A	c.(277-279)atG>atA	p.M93I	SCN3A_ENST00000283254.7_Missense_Mutation_p.M93I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M93I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	93					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTTTATTCATTACTATAA	0.303																																																	0													39.0	41.0	40.0					2																	166027044		2203	4292	6495	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.279G>A	2.37:g.166027044C>T	ENSP00000353206:p.Met93Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.M93I	ENST00000360093.3	37	c.279		2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269242	0.40095	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.95377	-3.69;-3.69;-3.64;-3.52;-3.31	4.97	4.97	0.65823	.	0.289294	0.24907	N	0.034657	D	0.84593	0.5506	N	0.00325	-1.645	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.80074	-0.1534	10	0.51188	T	0.08	.	18.5973	0.91234	0.0:1.0:0.0:0.0	.	93;93;93	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	I	93	ENSP00000353206:M93I;ENSP00000283254:M93I;ENSP00000386726:M93I;ENSP00000403348:M93I;ENSP00000391569:M93I	ENSP00000283254:M93I	M	-	3	0	SCN3A	165735290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.019000	0.41001	2.443000	0.82685	0.650000	0.86243	ATG	SCN3A	-	NULL		0.303	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		C	NM_006922		166027044	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166848682	166848682	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:166848682G>C	ENST00000303395.4	-	26	5102	c.5103C>G	c.(5101-5103)atC>atG	p.I1701M	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1690M|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1673M|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1701M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1701					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGTCATCGATCCCAACTT	0.463																																																	0													213.0	202.0	205.0					2																	166848682		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5103C>G	2.37:g.166848682G>C	ENSP00000303540:p.Ile1701Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.I1701M	ENST00000303395.4	37	c.5103	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835128	0.50951	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.52	-0.0874	0.13677	.	0.000000	0.64402	D	0.000006	D	0.98441	0.9481	M	0.75615	2.305	0.43218	D	0.995097	D	0.89917	1.0	D	0.85130	0.997	D	0.97007	0.9733	10	0.87932	D	0	.	5.3896	0.16237	0.5428:0.0:0.3291:0.1281	.	1690	P35498-2	.	M	1701;1701;1690;1673	ENSP00000407030:I1701M;ENSP00000303540:I1701M;ENSP00000364554:I1690M;ENSP00000386312:I1673M	ENSP00000303540:I1701M	I	-	3	3	SCN1A	166556928	0.975000	0.34042	1.000000	0.80357	0.989000	0.77384	0.280000	0.18790	0.404000	0.25506	-0.312000	0.09012	ATC	SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	G	NM_006920		166848682	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38645227	38645227	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:38645227C>T	ENST00000333535.4	-	12	2015	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	SCN5A_ENST00000449557.2_Silent_p.V622V|SCN5A_ENST00000451551.2_Silent_p.V622V|SCN5A_ENST00000413689.1_Silent_p.V622V|SCN5A_ENST00000423572.2_Silent_p.V622V|SCN5A_ENST00000414099.2_Silent_p.V622V|SCN5A_ENST00000443581.1_Silent_p.V622V|SCN5A_ENST00000425664.1_Silent_p.V622V|SCN5A_ENST00000450102.2_Silent_p.V622V|SCN5A_ENST00000455624.2_Silent_p.V622V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	622					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTAGCATCACAGGGCGGA	0.597																																																	0													27.0	30.0	29.0					3																	38645227		2050	4207	6257	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1866G>A	3.37:g.38645227C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V622	ENST00000333535.4	37	c.1866	CCDS46796.1	3																																																																																			SCN5A	-	pfam_DUF3451		0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38645227	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	0.811	T
SCO2	9997	genome.wustl.edu	37	22	50962089	50962089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:50962089G>T	ENST00000543927.1	-	2	958	c.752C>A	c.(751-753)tCa>tAa	p.S251*	SCO2_ENST00000252785.3_Nonsense_Mutation_p.S251*|SCO2_ENST00000395693.3_Nonsense_Mutation_p.S251*|SCO2_ENST00000535425.1_Nonsense_Mutation_p.S251*|CTA-384D8.36_ENST00000608319.1_RNA	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	251	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACACTGTCTGAGATCTGCTC	0.577																																																	0													92.0	86.0	88.0					22																	50962089		2203	4300	6503	SO:0001587	stop_gained	9997			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.752C>A	22.37:g.50962089G>T	ENSP00000444433:p.Ser251*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3T1B5|Q9UK87	Nonsense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.S251*	ENST00000543927.1	37	c.752	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004817	0.35320	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	.	.	.	5.09	1.85	0.25348	.	0.662303	0.12586	N	0.456031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.0032	8.9687	0.35892	0.2491:0.0:0.7509:0.0	.	.	.	.	X	251	.	ENSP00000252785:S251X	S	-	2	0	SCO2	49308955	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.534000	0.36051	0.267000	0.21916	-0.150000	0.13652	TCA	SCO2	-	superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.577	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	G	NM_005138		50962089	-1	no_errors	ENST00000252785	ensembl	human	known	70_37	nonsense	SNP	0.009	T
SDK2	54549	genome.wustl.edu	37	17	71354234	71354234	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:71354234G>C	ENST00000392650.3	-	40	5577	c.5577C>G	c.(5575-5577)atC>atG	p.I1859M	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.I1840M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647																																																	0													150.0	142.0	144.0					17																	71354234		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5577C>G	17.37:g.71354234G>C	ENSP00000376421:p.Ile1859Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I1859M	ENST00000392650.3	37	c.5577	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234661	0.58886	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.64085	-0.08;-0.08;-0.08	5.12	-3.82	0.04281	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051712	0.85682	D	0.000000	T	0.79076	0.4385	M	0.92026	3.265	0.40445	D	0.980088	D;D;D	0.76494	0.999;0.992;0.981	D;D;D	0.67103	0.949;0.936;0.949	T	0.83109	-0.0124	10	0.87932	D	0	.	15.0692	0.72021	0.0903:0.0:0.6704:0.2393	.	1859;1859;1840	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	1483;1859;1840;1016;1859;200	ENSP00000376421:I1859M;ENSP00000373378:I1840M;ENSP00000407098:I1016M	ENSP00000324967:I1859M	I	-	3	3	SDK2	68865829	0.748000	0.28294	0.972000	0.41901	0.989000	0.77384	-0.309000	0.08145	-0.689000	0.05149	-0.262000	0.10625	ATC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	G	NM_019064		71354234	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	missense	SNP	0.901	C
SEC31A	22872	genome.wustl.edu	37	4	83788337	83788337	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:83788337C>G	ENST00000395310.2	-	9	1197	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	SEC31A_ENST00000505984.1_Missense_Mutation_p.D339H|SEC31A_ENST00000443462.2_Missense_Mutation_p.D334H|SEC31A_ENST00000348405.4_Missense_Mutation_p.D339H|SEC31A_ENST00000508502.1_Missense_Mutation_p.D339H|SEC31A_ENST00000264405.5_Missense_Mutation_p.D111H|SEC31A_ENST00000513858.1_Missense_Mutation_p.D339H|SEC31A_ENST00000448323.1_Missense_Mutation_p.D339H|SEC31A_ENST00000326950.5_Missense_Mutation_p.D339H|SEC31A_ENST00000509142.1_Missense_Mutation_p.D339H|SEC31A_ENST00000508479.1_Missense_Mutation_p.D339H|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Missense_Mutation_p.D339H|SEC31A_ENST00000355196.2_Missense_Mutation_p.D339H|SEC31A_ENST00000311785.7_Missense_Mutation_p.D339H|SEC31A_ENST00000500777.2_Missense_Mutation_p.D339H|SEC31A_ENST00000432794.1_Missense_Mutation_p.D339H	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	339	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTTAAACCATCTGTGCTACCT	0.378																																																	0													137.0	125.0	129.0					4																	83788337		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1015G>C	4.37:g.83788337C>G	ENSP00000378721:p.Asp339His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D339H	ENST00000395310.2	37	c.1015	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166666	0.78339	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	1.33;1.2;2.34;2.34;1.21;2.23;2.34;1.33;1.21;1.08;1.2;2.35;2.34;3.21;2.34;2.25	5.54	5.54	0.83059	WD40-repeat-containing domain (1);	0.102150	0.64402	D	0.000003	T	0.62527	0.2435	M	0.65975	2.015	0.80722	D	1	P;P;D;D;P;B;D;D;P;D	0.69078	0.804;0.856;0.958;0.965;0.94;0.352;0.98;0.997;0.529;0.971	P;P;P;P;P;P;P;D;B;D	0.65010	0.664;0.526;0.799;0.681;0.77;0.482;0.891;0.931;0.396;0.919	T	0.56559	-0.7959	10	0.33141	T	0.24	-21.0709	19.8364	0.96659	0.0:1.0:0.0:0.0	.	334;339;339;339;339;339;339;339;339;111	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	H	339;339;339;334;339;339;339;339;339;339;339;339;339;111;339;339	ENSP00000337602:D339H;ENSP00000426886:D339H;ENSP00000378721:D339H;ENSP00000408027:D334H;ENSP00000426569:D339H;ENSP00000407944:D339H;ENSP00000400926:D339H;ENSP00000325087:D339H;ENSP00000309070:D339H;ENSP00000421633:D339H;ENSP00000421464:D339H;ENSP00000424635:D339H;ENSP00000347329:D339H;ENSP00000264405:D111H;ENSP00000424451:D339H;ENSP00000425999:D339H	ENSP00000264405:D111H	D	-	1	0	SEC31A	84007361	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	5.069000	0.64370	2.765000	0.95021	0.573000	0.79308	GAT	SEC31A	-	pfscan_WD40_repeat_dom		0.378	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	C	NM_016211		83788337	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	missense	SNP	1.000	G
SEMA3E	9723	genome.wustl.edu	37	7	83014705	83014705	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:83014705C>T	ENST00000307792.3	-	16	2247	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E534K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	594	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTTGTTCTCTATGCCATAA	0.383																																																	0													202.0	177.0	185.0					7																	83014705		2203	4300	6503	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1780G>A	7.37:g.83014705C>T	ENSP00000303212:p.Glu594Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.E594K	ENST00000307792.3	37	c.1780	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045615	0.93685	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01838	4.61;4.61	5.54	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	M	0.63208	1.945	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.21655	-1.0239	10	0.33940	T	0.23	.	15.8514	0.78934	0.1368:0.8632:0.0:0.0	.	594	O15041	SEM3E_HUMAN	K	594;534;594	ENSP00000303212:E594K;ENSP00000405052:E534K	ENSP00000303212:E594K	E	-	1	0	SEMA3E	82852641	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.346000	0.79347	1.320000	0.45209	0.650000	0.86243	GAG	SEMA3E	-	pfam_Ig_V-set,pfscan_Ig-like		0.383	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	C	NM_012431		83014705	-1	no_errors	ENST00000307792	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA6B	10501	genome.wustl.edu	37	19	4550843	4550843	+	Silent	SNP	C	C	T	rs370892574		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:4550843C>T	ENST00000586582.1	-	11	1399	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	SEMA6B_ENST00000301293.3_Silent_p.T363T|SEMA6B_ENST00000586965.1_Silent_p.T363T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	363	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCACCGGCGTCCAGATGG	0.657																																																	0								C		1,4405		0,1,2202	46.0	49.0	48.0		1089	-7.2	0.5	19		48	0,8600		0,0,4300	no	coding-synonymous	SEMA6B	NM_032108.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		363/889	4550843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10501			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1089G>A	19.37:g.4550843C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU4|F6IB19|Q9NRK9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.T363	ENST00000586582.1	37	c.1089	CCDS12131.1	19																																																																																			SEMA6B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.657	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	C	NM_032108		4550843	-1	no_errors	ENST00000301293	ensembl	human	known	70_37	silent	SNP	0.161	T
SEPT1	1731	genome.wustl.edu	37	16	30390802	30390802	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30390802C>T	ENST00000571393.1	-	9	900	c.714G>A	c.(712-714)ggG>ggA	p.G238G	SEPT1_ENST00000605106.1_Silent_p.G243G|SEPT1_ENST00000321367.3_Silent_p.G285G			Q8WYJ6	SEPT1_HUMAN	septin 1	238	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCGGCCGGTTCCCGCCATCCC	0.672																																																	0													77.0	70.0	72.0					16																	30390802		2197	4300	6497	SO:0001819	synonymous_variant	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.714G>A	16.37:g.30390802C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin	p.G243	ENST00000571393.1	37	c.729		16																																																																																			SEPT1	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.672	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		C	NM_052838		30390802	-1	no_errors	ENST00000321367	ensembl	human	known	70_37	silent	SNP	0.001	T
SEPT14	346288	genome.wustl.edu	37	7	55929647	55929647	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:55929647C>T	ENST00000388975.3	-	2	159	c.43G>A	c.(43-45)Gat>Aat	p.D15N	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	15					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCTCCATCAGCAGGTATT	0.294																																																	0													53.0	48.0	50.0					7																	55929647		1809	4071	5880	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.43G>A	7.37:g.55929647C>T	ENSP00000373627:p.Asp15Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.D15N	ENST00000388975.3	37	c.43	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	c	6.149	0.395630	0.11638	.	.	ENSG00000154997	ENST00000388975	T	0.51817	0.69	2.3	0.453	0.16639	.	.	.	.	.	T	0.33498	0.0865	L	0.39898	1.24	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.24190	-1.0167	9	0.42905	T	0.14	.	4.317	0.10998	0.0:0.6516:0.0:0.3484	.	15	Q6ZU15	SEP14_HUMAN	N	15	ENSP00000373627:D15N	ENSP00000373627:D15N	D	-	1	0	SEPT14	55897141	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.326000	0.19646	0.092000	0.17331	-0.373000	0.07131	GAT	SEPT14	-	NULL		0.294	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55929647	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	0.001	T
SEPT6	23157	genome.wustl.edu	37	X	118763424	118763424	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:118763424C>T	ENST00000343984.5	-	9	1401	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	SEPT6_ENST00000394616.4_Silent_p.K321K|SEPT6_ENST00000360156.7_Silent_p.K379K|SEPT6_ENST00000354228.4_Silent_p.K379K|SEPT6_ENST00000489216.1_Silent_p.K379K|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Silent_p.K379K|SEPT6_ENST00000394610.1_Silent_p.K379K|SEPT6_ENST00000394617.2_Silent_p.K409K	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	379					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCAGTTTCTTCTTCTCGTCCT	0.537			T	MLL	AML																																			Dom	yes		X	Xq24	23157	septin 6		L	0													134.0	122.0	126.0					X																	118763424		2203	4300	6503	SO:0001819	synonymous_variant	23157			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1137G>A	X.37:g.118763424C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.K409	ENST00000343984.5	37	c.1227	CCDS14584.1	X																																																																																			SEPT6	-	pirsf_Septin		0.537	SEPT6-001	KNOWN	basic|CCDS	protein_coding	SEPT6	HGNC	protein_coding	OTTHUMT00000058059.1	C	NM_145802		118763424	-1	no_errors	ENST00000394617	ensembl	human	known	70_37	silent	SNP	1.000	T
SEPT9	10801	genome.wustl.edu	37	17	75398439	75398439	+	Silent	SNP	C	C	T	rs573465338		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:75398439C>T	ENST00000427177.1	+	3	501	c.375C>T	c.(373-375)atC>atT	p.I125I	SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000423034.2_Silent_p.I118I|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000329047.8_Silent_p.I107I|SEPT9_ENST00000590294.1_Silent_p.I107I|SEPT9_ENST00000591198.1_Silent_p.I106I|SEPT9_ENST00000588690.1_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	125					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCGGGGCCATCGGCCCGTCCC	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14379	0.0		0.0	False		,,,				2504	0.0																0													13.0	17.0	16.0					17																	75398439		2032	4163	6195	SO:0001819	synonymous_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.375C>T	17.37:g.75398439C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1	p.I125	ENST00000427177.1	37	c.375	CCDS45790.1	17																																																																																			SEPT9	-	NULL		0.687	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	C	NM_006640		75398439	+1	no_errors	ENST00000427177	ensembl	human	known	70_37	silent	SNP	0.240	T
SERPINA9	327657	genome.wustl.edu	37	14	94935613	94935613	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:94935613C>T	ENST00000380365.3	-	2	643	c.565G>A	c.(565-567)Gac>Aac	p.D189N	SERPINA9_ENST00000448305.2_Missense_Mutation_p.D109N|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000298845.7_Missense_Mutation_p.D107N|SERPINA9_ENST00000337425.5_Missense_Mutation_p.D207N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.D171N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.D58N			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	189					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGATTATGTCTACAACCTTC	0.413																																																	0													146.0	143.0	144.0					14																	94935613		1888	4121	6009	SO:0001583	missense	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.565G>A	14.37:g.94935613C>T	ENSP00000369723:p.Asp189Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.D207N	ENST00000380365.3	37	c.619		14	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643842	0.14451	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	3.97	1.06	0.20224	Serpin domain (3);	0.395194	0.22758	N	0.055991	T	0.79661	0.4484	L	0.31476	0.935	0.09310	N	1	B;B;B;B;B	0.23735	0.09;0.04;0.033;0.002;0.077	B;B;B;B;B	0.28991	0.036;0.097;0.036;0.004;0.075	T	0.65294	-0.6203	10	0.33141	T	0.24	.	5.1942	0.15227	0.1324:0.5438:0.0:0.3239	.	171;189;109;207;107	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	N	109;107;58;207;189;171	ENSP00000414092:D109N;ENSP00000298845:D107N;ENSP00000409012:D58N;ENSP00000337133:D207N;ENSP00000369723:D189N;ENSP00000445476:D171N	ENSP00000298845:D107N	D	-	1	0	SERPINA9	94005366	0.000000	0.05858	0.008000	0.14137	0.523000	0.34469	-0.194000	0.09559	-0.006000	0.14370	0.462000	0.41574	GAC	SERPINA9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.413	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	C	NM_175739		94935613	-1	no_errors	ENST00000337425	ensembl	human	known	70_37	missense	SNP	0.003	T
SETD5	55209	genome.wustl.edu	37	3	9515167	9515167	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:9515167C>T	ENST00000406341.1	+	19	3633	c.3443C>T	c.(3442-3444)tCc>tTc	p.S1148F	SETD5_ENST00000302463.6_Missense_Mutation_p.S1050F|SETD5_ENST00000402466.1_Missense_Mutation_p.S1050F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1148F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1167F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1148	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCATCAGATTCCAGAGGCACT	0.473																																																	0													66.0	63.0	64.0					3																	9515167		1894	4127	6021	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3443C>T	3.37:g.9515167C>T	ENSP00000383939:p.Ser1148Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S1148F	ENST00000406341.1	37	c.3443	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666746	0.67814	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92348	-2.69;-3.02;-2.69;-2.69;-3.02	6.07	5.19	0.71726	.	0.325285	0.31092	N	0.008266	D	0.86581	0.5967	N	0.14661	0.345	0.34115	D	0.663429	P;P;P	0.49783	0.928;0.846;0.553	P;B;B	0.44860	0.462;0.295;0.11	D	0.90678	0.4603	10	0.56958	D	0.05	-11.2614	14.8137	0.70013	0.0:0.9317:0.0:0.0683	.	817;1050;1148	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	F	1148;1050;1148;1167;1050	ENSP00000385852:S1148F;ENSP00000384429:S1050F;ENSP00000383939:S1148F;ENSP00000384114:S1167F;ENSP00000302028:S1050F	ENSP00000302028:S1050F	S	+	2	0	SETD5	9490167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.501000	0.53325	2.890000	0.99128	0.585000	0.79938	TCC	SETD5	-	NULL		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9515167	+1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	T
SF3A3	10946	genome.wustl.edu	37	1	38444671	38444671	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:38444671C>G	ENST00000373019.4	-	10	1771	c.816G>C	c.(814-816)ttG>ttC	p.L272F	SF3A3_ENST00000448721.2_Missense_Mutation_p.L219F|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	272					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCCACATTTCAAGCCTAAAG	0.348																																																	0													58.0	65.0	63.0					1																	38444671		2203	4300	6503	SO:0001583	missense	10946			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.816G>C	1.37:g.38444671C>G	ENSP00000362110:p.Leu272Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.L272F	ENST00000373019.4	37	c.816	CCDS428.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876023	0.72180	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.38	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.92169	3.28	0.80722	D	1	P;D	0.56968	0.911;0.978	P;P	0.55871	0.786;0.783	T	0.73254	-0.4041	9	0.18276	T	0.48	-7.0692	6.5412	0.22380	0.1455:0.7049:0.0:0.1496	.	219;272	E7EUT8;Q12874	.;SF3A3_HUMAN	F	272;219	.	ENSP00000362110:L272F	L	-	3	2	SF3A3	38217258	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.527000	0.22987	0.658000	0.30925	0.591000	0.81541	TTG	SF3A3	-	NULL		0.348	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	C	NM_006802		38444671	-1	no_errors	ENST00000373019	ensembl	human	known	70_37	missense	SNP	1.000	G
SH3KBP1	30011	genome.wustl.edu	37	X	19626095	19626095	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:19626095G>A	ENST00000397821.3	-	9	1256	c.966C>T	c.(964-966)ttC>ttT	p.F322F	SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379698.4_Silent_p.F285F|SH3KBP1_ENST00000541422.1_Silent_p.F61F|SH3KBP1_ENST00000379716.1_Silent_p.F84F|SH3KBP1_ENST00000379697.3_Silent_p.F366F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	322	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTAACTTCACGAAGTTATCGG	0.512																																																	0													90.0	75.0	80.0					X																	19626095		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.966C>T	X.37:g.19626095G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.F322	ENST00000397821.3	37	c.966	CCDS14193.1	X																																																																																			SH3KBP1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3		0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	G	NM_031892		19626095	-1	no_errors	ENST00000397821	ensembl	human	known	70_37	silent	SNP	0.989	A
SH3TC1	54436	genome.wustl.edu	37	4	8211480	8211480	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:8211480G>T	ENST00000245105.3	+	3	245	c.178G>T	c.(178-180)Gct>Tct	p.A60S	SH3TC1_ENST00000539824.1_5'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	60										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGCAGACGAGGCTCCTCCTGC	0.612																																					NSCLC(145;2298 2623 35616 37297)												0													41.0	40.0	40.0					4																	8211480		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.178G>T	4.37:g.8211480G>T	ENSP00000245105:p.Ala60Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.A60S	ENST00000245105.3	37	c.178	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	g	5.873	0.345141	0.11126	.	.	ENSG00000125089	ENST00000245105;ENST00000457650	T	0.79352	-1.26	2.32	0.567	0.17325	.	1.015500	0.07949	U	0.980628	T	0.62502	0.2433	L	0.36672	1.1	0.09310	N	0.999999	B	0.14012	0.009	B	0.16289	0.015	T	0.41016	-0.9532	10	0.13108	T	0.6	-0.0035	3.5896	0.07983	0.1576:0.2646:0.5779:0.0	.	60	Q8TE82	S3TC1_HUMAN	S	60	ENSP00000245105:A60S	ENSP00000245105:A60S	A	+	1	0	SH3TC1	8262380	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.190000	0.17057	0.119000	0.18210	-0.231000	0.12243	GCT	SH3TC1	-	NULL		0.612	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	G	NM_018986		8211480	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	0.000	T
SHC3	53358	genome.wustl.edu	37	9	91661881	91661881	+	Missense_Mutation	SNP	C	C	T	rs138519014		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:91661881C>T	ENST00000375835.4	-	8	1297	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	331	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTCCTCTTCCGTCCATGGC	0.473																																																	0								C	LYS/GLU	0,4406		0,0,2203	135.0	117.0	123.0		991	3.6	0.5	9	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	SHC3	NM_016848.5	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	331/595	91661881	2,13004	2203	4300	6503	SO:0001583	missense	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.991G>A	9.37:g.91661881C>T	ENSP00000364995:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.E331K	ENST00000375835.4	37	c.991	CCDS6681.1	9	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814173	0.32053	0.0	2.33E-4	ENSG00000148082	ENST00000375835	T	0.32272	1.46	5.44	3.61	0.41365	.	0.052621	0.85682	N	0.000000	T	0.32406	0.0828	M	0.63843	1.955	0.80722	D	1	B	0.13145	0.007	B	0.19946	0.027	T	0.12192	-1.0557	10	0.49607	T	0.09	-14.0458	12.612	0.56556	0.0:0.8708:0.0:0.1292	.	331	Q92529	SHC3_HUMAN	K	331	ENSP00000364995:E331K	ENSP00000364995:E331K	E	-	1	0	SHC3	90851701	1.000000	0.71417	0.545000	0.28153	0.024000	0.10985	5.387000	0.66243	0.854000	0.35336	0.655000	0.94253	GAA	SHC3	-	NULL		0.473	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC3	HGNC	protein_coding	OTTHUMT00000052986.1	C	NM_016848		91661881	-1	no_errors	ENST00000375835	ensembl	human	known	70_37	missense	SNP	0.993	T
SHROOM4	57477	genome.wustl.edu	37	X	50351126	50351126	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:50351126C>T	ENST00000289292.7	-	6	3299	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	SHROOM4_ENST00000376020.2_Missense_Mutation_p.E1006K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.E890K			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1006					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGGGTTCTCAAGGCAAGGA	0.438																																																	0													51.0	47.0	48.0					X																	50351126		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3016G>A	X.37:g.50351126C>T	ENSP00000289292:p.Glu1006Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1006K	ENST00000289292.7	37	c.3016	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806485	0.50421	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15603	2.83;2.83;2.41	5.51	3.68	0.42216	.	0.324927	0.26499	N	0.024033	T	0.14270	0.0345	L	0.34521	1.04	0.31269	N	0.692007	P	0.37061	0.58	B	0.35114	0.196	T	0.03503	-1.1030	10	0.72032	D	0.01	.	12.8285	0.57733	0.0:0.6938:0.3062:0.0	.	1006	Q9ULL8	SHRM4_HUMAN	K	1006;1006;890	ENSP00000289292:E1006K;ENSP00000365188:E1006K;ENSP00000421450:E890K	ENSP00000289292:E1006K	E	-	1	0	SHROOM4	50367866	1.000000	0.71417	0.979000	0.43373	0.920000	0.55202	2.444000	0.44890	0.470000	0.27294	0.600000	0.82982	GAG	SHROOM4	-	NULL		0.438	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50351126	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.994	T
SIX3	6496	genome.wustl.edu	37	2	45169636	45169636	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:45169636C>T	ENST00000260653.3	+	1	735	c.393C>T	c.(391-393)atC>atT	p.I131I	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	131					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	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)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGAGTCGATCCTGCGCGCGC	0.667																																																	0													12.0	15.0	14.0					2																	45169636		2080	4123	6203	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.393C>T	2.37:g.45169636C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5A5|Q53T42	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I131	ENST00000260653.3	37	c.393	CCDS1821.1	2																																																																																			SIX3	-	NULL		0.667	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	C	NM_005413		45169636	+1	no_errors	ENST00000260653	ensembl	human	known	70_37	silent	SNP	1.000	T
SKI	6497	genome.wustl.edu	37	1	2235502	2235502	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:2235502G>A	ENST00000378536.4	+	4	1507	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	479					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGGACAAGGACTCGGAGGC	0.647																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													38.0	29.0	32.0					1																	2235502		2201	4299	6500	SO:0001583	missense	6497			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1435G>A	1.37:g.2235502G>A	ENSP00000367797:p.Asp479Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.D479N	ENST00000378536.4	37	c.1435	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011464	0.35511	.	.	ENSG00000157933	ENST00000378536	D	0.95821	-3.82	4.08	4.08	0.47627	.	0.188681	0.44902	D	0.000412	D	0.92107	0.7498	L	0.39898	1.24	0.28055	N	0.933221	B	0.18461	0.028	B	0.14578	0.011	D	0.84405	0.0562	10	0.30854	T	0.27	-26.1515	15.8102	0.78557	0.0:0.0:1.0:0.0	.	479	P12755	SKI_HUMAN	N	479	ENSP00000367797:D479N	ENSP00000367797:D479N	D	+	1	0	SKI	2225362	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.805000	0.75191	2.264000	0.75181	0.561000	0.74099	GAC	SKI	-	NULL		0.647	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	G	NM_003036		2235502	+1	no_errors	ENST00000378536	ensembl	human	known	70_37	missense	SNP	1.000	A
SKOR1	390598	genome.wustl.edu	37	15	68122618	68122618	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:68122618C>T	ENST00000380035.2	+	4	2555	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	SKOR1_ENST00000341418.5_Missense_Mutation_p.P736S|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.P794S|SKOR1_ENST00000554054.1_Missense_Mutation_p.P805S|SKOR1_ENST00000389002.1_Missense_Mutation_p.P789S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	833					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCAGCCAAGTCCTGCAAATAC	0.562																																																	0													86.0	71.0	76.0					15																	68122618		2200	4298	6498	SO:0001583	missense	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2497C>T	15.37:g.68122618C>T	ENSP00000369374:p.Pro833Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.P833S	ENST00000380035.2	37	c.2497		15	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691177	0.68271	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.65	5.65	0.86999	.	0.204155	0.42548	D	0.000692	D	0.86222	0.5881	L	0.32530	0.975	0.46356	D	0.999004	B	0.25169	0.119	B	0.32090	0.14	T	0.82894	-0.0231	10	0.51188	T	0.08	-16.8393	18.2773	0.90087	0.0:1.0:0.0:0.0	.	789	P84550-3	.	S	736;794;805;833;789	ENSP00000343200:P736S;ENSP00000451193:P794S;ENSP00000452361:P805S;ENSP00000369374:P833S;ENSP00000373654:P789S	ENSP00000343200:P736S	P	+	1	0	SKOR1	65909672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.392000	0.66272	2.648000	0.89879	0.655000	0.94253	CCT	SKOR1	-	NULL		0.562	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	C	NM_001031807		68122618	+1	no_errors	ENST00000380035	ensembl	human	known	70_37	missense	SNP	1.000	T
SLA	6503	genome.wustl.edu	37	8	134072369	134072369	+	Missense_Mutation	SNP	C	C	T	rs376259266		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:134072369C>T	ENST00000338087.5	-	3	856	c.37G>A	c.(37-39)Gag>Aag	p.E13K	SLA_ENST00000518565.1_5'UTR|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.E30K|SLA_ENST00000517648.1_Missense_Mutation_p.E30K|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.E53K|SLA_ENST00000524345.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	13					positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGGGCCTCTCGGCAGGCGCA	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15793	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU,LYS/GLU,LYS/GLU,	0,4406		0,0,2203	145.0	157.0	153.0		37,88,157,	5.5	1.0	8		153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron	SLA,TG	NM_001045556.2,NM_001045557.2,NM_006748.3,NM_003235.4	56,56,56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,	13/277,30/294,53/317,	134072369	1,13005	2203	4300	6503	SO:0001583	missense	6503				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.37G>A	8.37:g.134072369C>T	ENSP00000337548:p.Glu13Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.E53K	ENST00000338087.5	37	c.157	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706920	0.48412	0.0	1.16E-4	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341;ENST00000521302;ENST00000523610;ENST00000519747;ENST00000519558	T;T;T;T;T;T;T;T;T	0.79454	-1.13;-1.1;-1.08;2.4;-0.75;1.27;0.51;0.45;-1.27	5.54	5.54	0.83059	Src homology-3 domain (1);	0.341197	0.34932	N	0.003574	T	0.67581	0.2908	L	0.44542	1.39	0.42236	D	0.991914	P;P;P;P;B;P	0.49358	0.923;0.727;0.727;0.76;0.327;0.727	B;B;B;B;B;B	0.33521	0.165;0.078;0.078;0.062;0.017;0.078	T	0.73369	-0.4004	10	0.51188	T	0.08	-43.6053	15.3214	0.74124	0.0:1.0:0.0:0.0	.	30;13;13;13;13;13	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	K	13;53;30;30;13;13;13;13;13;13	ENSP00000337548:E13K;ENSP00000394049:E53K;ENSP00000378759:E30K;ENSP00000428559:E30K;ENSP00000430596:E13K;ENSP00000429681:E13K;ENSP00000430184:E13K;ENSP00000428087:E13K;ENSP00000428971:E13K	ENSP00000337548:E13K	E	-	1	0	SLA	134141551	0.994000	0.37717	0.965000	0.40720	0.252000	0.25951	4.086000	0.57664	2.755000	0.94549	0.563000	0.77884	GAG	SLA	-	superfamily_SH3_domain		0.582	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	C			134072369	-1	no_errors	ENST00000427060	ensembl	human	known	70_37	missense	SNP	0.983	T
SLC17A2	10246	genome.wustl.edu	37	6	25916994	25916995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:25916994_25916995insA	ENST00000265425.3	-	7	868_869	c.848_849insT	c.(847-849)ttcfs	p.F283fs	SLC17A2_ENST00000377850.3_Frame_Shift_Ins_p.F283fs|SLC17A2_ENST00000360488.3_Frame_Shift_Ins_p.F283fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	283					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGAAATGGCTGAAAAAACCCAG	0.446																																																	0																																										SO:0001589	frameshift_variant	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.849dupT	6.37:g.25917000_25917000dupA	ENSP00000265425:p.Phe283fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S284fs	ENST00000265425.3	37	c.849_848		6																																																																																			SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.446	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-			25916995	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
SLC1A6	6511	genome.wustl.edu	37	19	15079227	15079227	+	Missense_Mutation	SNP	C	C	T	rs568446140		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:15079227C>T	ENST00000221742.3	-	3	443	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	SLC1A6_ENST00000598504.1_Missense_Mutation_p.G146S|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G146S|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G146S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	146					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ATGAGGATGCCGATGAAGACC	0.612																																																	0													111.0	76.0	88.0					19																	15079227		2203	4300	6503	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.436G>A	19.37:g.15079227C>T	ENSP00000221742:p.Gly146Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G146S	ENST00000221742.3	37	c.436	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	26.2	4.715814	0.89112	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.66460	-0.21;-0.21	4.3	4.3	0.51218	.	0.053374	0.85682	D	0.000000	D	0.83622	0.5294	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.964	D	0.87162	0.2215	10	0.87932	D	0	-20.0664	14.2928	0.66292	0.0:1.0:0.0:0.0	.	146;147;146	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	S	146;146;147	ENSP00000221742:G146S;ENSP00000446175:G146S	ENSP00000221742:G146S	G	-	1	0	SLC1A6	14940227	1.000000	0.71417	0.967000	0.41034	0.760000	0.43138	7.464000	0.80887	2.223000	0.72356	0.457000	0.33378	GGC	SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	C	NM_005071		15079227	-1	no_errors	ENST00000221742	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC22A23	63027	genome.wustl.edu	37	6	3323946	3323946	+	Intron	SNP	C	C	G	rs547505028		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:3323946C>G	ENST00000406686.3	-	4	1082				SLC22A23_ENST00000380298.2_3'UTR|SLC22A23_ENST00000490273.1_Intron|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000436008.2_Intron|SLC22A23_ENST00000380302.4_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAAACCTTCTCAGACAGAACC	0.458																																																	0																																										SO:0001627	intron_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1082+121G>C	6.37:g.3323946C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	RNA	SNP	-	NULL	ENST00000406686.3	37	NULL	CCDS47363.1	6																																																																																			SLC22A23	-	-		0.458	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	SLC22A23	HGNC	protein_coding	OTTHUMT00000353059.1	C	NM_021945		3323946	-1	no_errors	ENST00000433689	ensembl	human	known	70_37	rna	SNP	0.010	G
SLC25A14	9016	genome.wustl.edu	37	X	129506941	129506941	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:129506941G>A	ENST00000218197.5	+	0	1222					NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AATTATATGTGAGCCCAGCCC	0.413																																																	0													154.0	149.0	151.0					X																	129506941		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.*17G>A	X.37:g.129506941G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	RNA	SNP	-	NULL	ENST00000218197.5	37	NULL	CCDS14623.1	X																																																																																			SLC25A14	-	-		0.413	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	G	NM_022810, NM_003951		129506941	+1	no_errors	ENST00000465988	ensembl	human	known	70_37	rna	SNP	0.243	A
SLC25A35	399512	genome.wustl.edu	37	17	8197858	8197858	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:8197858C>T	ENST00000577745.1	-	1	778	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	SLC25A35_ENST00000396278.1_Missense_Mutation_p.G90R|SLC25A35_ENST00000580340.1_Missense_Mutation_p.G90R|SLC25A35_ENST00000380067.2_Missense_Mutation_p.G90R|SLC25A35_ENST00000579192.1_Missense_Mutation_p.G90R			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	90					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						AGGTAGCCCCCAGCCTCAGCC	0.662																																																	0													34.0	34.0	34.0					17																	8197858		2203	4299	6502	SO:0001583	missense	399512			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.268G>A	17.37:g.8197858C>T	ENSP00000464231:p.Gly90Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G90R	ENST00000577745.1	37	c.268		17	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486344	0.26686	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.77358	-1.09;-1.09	5.39	-2.61	0.06171	Mitochondrial carrier domain (2);	0.798663	0.12083	N	0.501191	T	0.52917	0.1764	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.35450	-0.9788	10	0.10636	T	0.68	0.0111	2.4587	0.04536	0.117:0.3893:0.1154:0.3783	.	90;90	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	R	90	ENSP00000369407:G90R;ENSP00000379574:G90R	ENSP00000369407:G90R	G	-	1	0	SLC25A35	8138583	0.000000	0.05858	0.507000	0.27676	0.682000	0.39822	-0.114000	0.10757	-0.424000	0.07382	0.456000	0.33151	GGG	SLC25A35	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.662	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	HGNC	protein_coding	OTTHUMT00000442146.1	C	NM_201520		8197858	-1	no_errors	ENST00000577745	ensembl	human	known	70_37	missense	SNP	0.110	T
SLC25A47	283600	genome.wustl.edu	37	14	100795778	100795778	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:100795778C>G	ENST00000361529.3	+	6	801	c.723C>G	c.(721-723)atC>atG	p.I241M	SLC25A47_ENST00000557052.1_Missense_Mutation_p.I95M	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	241					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGACGTGATCAAGTCGAGAC	0.667																																					GBM(11;1289 1351)												0													54.0	58.0	57.0					14																	100795778		2203	4300	6503	SO:0001583	missense	283600				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.723C>G	14.37:g.100795778C>G	ENSP00000354886:p.Ile241Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.I241M	ENST00000361529.3	37	c.723	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117999	0.56505	.	.	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.81415	-1.49;-1.49	5.39	3.5	0.40072	Mitochondrial carrier domain (2);	0.215085	0.48286	D	0.000196	D	0.87845	0.6280	M	0.85299	2.745	0.46609	D	0.999124	D	0.63046	0.992	D	0.73380	0.98	D	0.87020	0.2128	10	0.87932	D	0	-1.636	5.4374	0.16488	0.0:0.6272:0.158:0.2148	.	241	Q6Q0C1	S2547_HUMAN	M	241;95	ENSP00000354886:I241M;ENSP00000451078:I95M	ENSP00000354886:I241M	I	+	3	3	SLC25A47	99865531	0.997000	0.39634	1.000000	0.80357	0.803000	0.45373	0.459000	0.21908	1.214000	0.43395	0.561000	0.74099	ATC	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.667	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	C			100795778	+1	no_errors	ENST00000361529	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC25A6	293	genome.wustl.edu	37	X	1508375	1508375	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:1508375G>A	ENST00000381401.5	-	2	1071	c.357C>T	c.(355-357)tcC>tcT	p.S119S	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	119					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCGCACCGCCGGAGGCCAGGT	0.637																																																	0								A		1,4405		0,1,2202	141.0	148.0	146.0		357	-3.7	0.1	X	dbSNP_134	146	0,8592		0,0,4296	no	coding-synonymous	SLC25A6	NM_001636.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		119/299	1508375	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.357C>T	X.37:g.1508375G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.S119	ENST00000381401.5	37	c.357	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor		0.637	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	G	NM_001636		1508375	-1	no_errors	ENST00000381401	ensembl	human	known	70_37	silent	SNP	0.689	A
SLC34A2	10568	genome.wustl.edu	37	4	25677795	25677795	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:25677795C>T	ENST00000382051.3	+	13	1547	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SLC34A2_ENST00000504570.1_Silent_p.I498I|SLC34A2_ENST00000503434.1_Silent_p.I498I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	499					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTCCGGCATCTTGCTGTGGT	0.592			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													118.0	95.0	103.0					4																	25677795		2203	4300	6503	SO:0001819	synonymous_variant	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1497C>T	4.37:g.25677795C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.I499	ENST00000382051.3	37	c.1497	CCDS3435.1	4																																																																																			SLC34A2	-	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt		0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	C	NM_006424		25677795	+1	no_errors	ENST00000382051	ensembl	human	known	70_37	silent	SNP	0.403	T
SLC35A5	55032	genome.wustl.edu	37	3	112301776	112301776	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:112301776G>A	ENST00000492406.1	+	0	1751				SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5						nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTAAAGAACTGATACAGGAGT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.*193G>A	3.37:g.112301776G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	RNA	SNP	-	NULL	ENST00000492406.1	37	NULL	CCDS2967.1	3																																																																																			SLC35A5	-	-		0.333	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	HGNC	protein_coding	OTTHUMT00000354184.1	G	NM_017945		112301776	+1	no_errors	ENST00000460713	ensembl	human	known	70_37	rna	SNP	0.000	A
SLC38A9	153129	genome.wustl.edu	37	5	54948506	54948506	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:54948506G>C	ENST00000396865.2	-	10	1394	c.803C>G	c.(802-804)tCt>tGt	p.S268C	SLC38A9_ENST00000416547.2_Missense_Mutation_p.S144C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.S268C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.S241C|SLC38A9_ENST00000539768.1_Missense_Mutation_p.S268C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.S205C	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	268					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAAAATCATAGAGCTGTTGTC	0.448																																																	0													84.0	80.0	81.0					5																	54948506		2203	4300	6503	SO:0001583	missense	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.803C>G	5.37:g.54948506G>C	ENSP00000380074:p.Ser268Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S268C	ENST00000396865.2	37	c.803	CCDS3968.1	5	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905201	0.52333	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T;T	0.48836	1.83;1.83;0.8;1.85;1.85;1.36	5.4	5.4	0.78164	.	0.665589	0.15860	N	0.241092	T	0.56775	0.2008	L	0.60455	1.87	0.09310	N	1	D;D	0.65815	0.995;0.985	P;B	0.52758	0.708;0.43	T	0.53711	-0.8400	10	0.59425	D	0.04	-10.2749	13.8326	0.63391	0.0759:0.0:0.9241:0.0	.	241;268	B3KXV1;Q8NBW4	.;S38A9_HUMAN	C	268;268;268;205;144;241	ENSP00000380074:S268C;ENSP00000316596:S268C;ENSP00000437771:S268C;ENSP00000420934:S205C;ENSP00000397429:S144C;ENSP00000427335:S241C	ENSP00000316596:S268C	S	-	2	0	SLC38A9	54984263	0.487000	0.25988	0.577000	0.28562	0.760000	0.43138	1.816000	0.38992	2.687000	0.91594	0.563000	0.77884	TCT	SLC38A9	-	NULL		0.448	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	G	NM_173514		54948506	-1	no_errors	ENST00000318672	ensembl	human	known	70_37	missense	SNP	0.011	C
SLC7A3	84889	genome.wustl.edu	37	X	70145747	70145747	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:70145747C>G	ENST00000374299.3	-	12	1920	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E592D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	592					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TACTCTTAATCTCTTCCAGGC	0.493																																																	0													220.0	174.0	190.0					X																	70145747		2203	4300	6503	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1776G>C	X.37:g.70145747C>G	ENSP00000363417:p.Glu592Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.E592D	ENST00000374299.3	37	c.1776	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217338	0.09810	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88509	-2.39;-2.39	4.78	2.76	0.32466	.	0.333223	0.35349	N	0.003270	T	0.73458	0.3589	N	0.08118	0	0.21290	N	0.999737	B	0.09022	0.002	B	0.10450	0.005	T	0.57476	-0.7805	10	0.17832	T	0.49	.	7.4676	0.27330	0.0:0.7503:0.0:0.2497	.	592	Q8WY07	CTR3_HUMAN	D	592	ENSP00000363417:E592D;ENSP00000298085:E592D	ENSP00000298085:E592D	E	-	3	2	SLC7A3	70062472	0.143000	0.22626	0.043000	0.18650	0.303000	0.27691	0.416000	0.21198	0.404000	0.25506	0.436000	0.28706	GAG	SLC7A3	-	NULL		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	C	NM_032803		70145747	-1	no_errors	ENST00000298085	ensembl	human	known	70_37	missense	SNP	0.374	G
SLCO6A1	133482	genome.wustl.edu	37	5	101813540	101813540	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:101813540G>A	ENST00000506729.1	-	3	813	c.642C>T	c.(640-642)gtC>gtT	p.V214V	SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Silent_p.V214V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCAACCACTGACAACCTTTA	0.338																																																	0													148.0	145.0	146.0					5																	101813540		2203	4300	6503	SO:0001819	synonymous_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.642C>T	5.37:g.101813540G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.V214	ENST00000506729.1	37	c.642	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	G	NM_173488		101813540	-1	no_errors	ENST00000379807	ensembl	human	known	70_37	silent	SNP	0.001	A
SLITRK4	139065	genome.wustl.edu	37	X	142718330	142718330	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:142718330G>A	ENST00000381779.4	-	2	820	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SLITRK4_ENST00000338017.4_Silent_p.L199L|SLITRK4_ENST00000356928.1_Silent_p.L199L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	199						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTTCCAGAACCCCGATA	0.443																																																	0													81.0	78.0	79.0					X																	142718330		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.595C>T	X.37:g.142718330G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L199	ENST00000381779.4	37	c.595	CCDS14679.1	X																																																																																			SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp		0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718330	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK5	26050	genome.wustl.edu	37	13	88330295	88330295	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:88330295C>T	ENST00000325089.6	+	2	2871	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P	SLITRK5_ENST00000400028.3_Silent_p.P643P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	884					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTGCAGCCCCGCTGCTTACA	0.592																																																	0													54.0	57.0	56.0					13																	88330295		2203	4300	6503	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2652C>T	13.37:g.88330295C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P884	ENST00000325089.6	37	c.2652	CCDS9465.1	13																																																																																			SLITRK5	-	NULL		0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	C			88330295	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	silent	SNP	0.724	T
SMC1B	27127	genome.wustl.edu	37	22	45802438	45802438	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:45802438C>G	ENST00000357450.4	-	4	517	c.518G>C	c.(517-519)aGa>aCa	p.R173T	SMC1B_ENST00000404354.3_Missense_Mutation_p.R173T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	173					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGTAACTTTCTTTTCTTTTC	0.368																																																	0													85.0	78.0	80.0					22																	45802438		1809	4072	5881	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.518G>C	22.37:g.45802438C>G	ENSP00000350036:p.Arg173Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.R173T	ENST00000357450.4	37	c.518	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637863	0.29157	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79554	-1.28;3.25	5.74	3.2	0.36748	.	0.271683	0.31461	N	0.007614	T	0.51890	0.1701	N	0.01874	-0.695	0.28431	N	0.91727	B;B	0.10296	0.003;0.001	B;B	0.19666	0.026;0.004	T	0.41980	-0.9478	10	0.16420	T	0.52	.	6.301	0.21113	0.0:0.2487:0.0:0.7513	.	173;173	Q8NDV3-2;Q8NDV3-3	.;.	T	173	ENSP00000350036:R173T;ENSP00000385902:R173T	ENSP00000350036:R173T	R	-	2	0	SMC1B	44181102	0.967000	0.33354	1.000000	0.80357	0.927000	0.56198	1.093000	0.30939	0.450000	0.26774	0.561000	0.74099	AGA	SMC1B	-	pfam_RecF/RecN/SMC		0.368	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	C	NM_148674		45802438	-1	no_errors	ENST00000357450	ensembl	human	known	70_37	missense	SNP	0.998	G
SMEK2	57223	genome.wustl.edu	37	2	55842596	55842596	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:55842596C>T	ENST00000345102.5	-	2	490	c.189G>A	c.(187-189)caG>caA	p.Q63Q	SMEK2_ENST00000272313.5_Silent_p.Q63Q|SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Silent_p.Q63Q	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	63	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTGTTGTTTCTGATATGCAG	0.318																																																	0													93.0	97.0	95.0					2																	55842596		2201	4299	6500	SO:0001819	synonymous_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.189G>A	2.37:g.55842596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.Q63	ENST00000345102.5	37	c.189	CCDS46289.1	2																																																																																			SMEK2	-	NULL		0.318	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	C	NM_020463		55842596	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	silent	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18865998	18865999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18865998_18865999insT	ENST00000446231.2	-	30	4874_4875	c.4462_4463insA	c.(4462-4464)accfs	p.T1488fs	SMG1_ENST00000389467.3_Frame_Shift_Ins_p.T1488fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1488	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1484N(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAGCAATTTGGTTTTTTCAATA	0.317																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4463dupA	16.37:g.18866004_18866004dupT	ENSP00000402515:p.Thr1488fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T1488fs	ENST00000446231.2	37	c.4463_4462	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.317	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	NM_015092		18865999	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
SMG1	23049	genome.wustl.edu	37	16	18866005	18866005	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18866005C>G	ENST00000446231.2	-	30	4868	c.4456G>C	c.(4456-4458)Gaa>Caa	p.E1486Q	SMG1_ENST00000389467.3_Missense_Mutation_p.E1486Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1486	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGGTTTTTTCAATATCAAGT	0.333																																																	0													68.0	63.0	64.0					16																	18866005		1809	4072	5881	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4456G>C	16.37:g.18866005C>G	ENSP00000402515:p.Glu1486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1486Q	ENST00000446231.2	37	c.4456	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310974	0.60414	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01369	4.97;4.97	5.74	5.74	0.90152	PIK-related kinase (1);Armadillo-type fold (1);	0.210963	0.33309	N	0.005041	T	0.05364	0.0142	L	0.34521	1.04	0.50039	D	0.999849	D	0.63880	0.993	D	0.72982	0.979	T	0.57602	-0.7783	10	0.38643	T	0.18	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	1486	Q96Q15	SMG1_HUMAN	Q	1486	ENSP00000402515:E1486Q;ENSP00000374118:E1486Q	ENSP00000374118:E1486Q	E	-	1	0	SMG1	18773506	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.476000	0.81055	2.716000	0.92895	0.561000	0.74099	GAA	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18866005	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	G
SMG1	23049	genome.wustl.edu	37	16	18866113	18866113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:18866113C>A	ENST00000446231.2	-	30	4760	c.4348G>T	c.(4348-4350)Gaa>Taa	p.E1450*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.E1450*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1450	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGCTGAACTTCACTGCACTGT	0.443																																																	0													200.0	188.0	192.0					16																	18866113		1928	4132	6060	SO:0001587	stop_gained	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4348G>T	16.37:g.18866113C>A	ENSP00000402515:p.Glu1450*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1450*	ENST00000446231.2	37	c.4348	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	47	13.005990	0.99712	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.89	4.94	0.65067	.	0.092119	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9125	0.70770	0.0:0.9316:0.0:0.0684	.	.	.	.	X	1450	.	ENSP00000374118:E1450X	E	-	1	0	SMG1	18773614	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.544000	0.53640	1.499000	0.48617	0.561000	0.74099	GAA	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18866113	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57292169	57292169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:57292169C>T	ENST00000543872.2	+	5	3046	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*	SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q928*|CTD-2510F5.6_ENST00000577660.1_Nonsense_Mutation_p.Q47*			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	928					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTTCAGGTTCAGCCAGGCCC	0.388																																																	0													82.0	78.0	79.0					17																	57292169		2203	4300	6503	SO:0001587	stop_gained	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2782C>T	17.37:g.57292169C>T	ENSP00000438748:p.Gln928*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	pfam_Smg8/Smg9	p.Q928*	ENST00000543872.2	37	c.2782	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.339020	0.99142	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-15.2876	18.8899	0.92395	0.0:1.0:0.0:0.0	.	.	.	.	X	928	.	ENSP00000300917:Q928X	Q	+	1	0	SMG8	54646951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.245000	0.78237	2.707000	0.92482	0.561000	0.74099	CAG	SMG8	-	pfam_Smg8/Smg9		0.388	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57292169	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SMUG1	23583	genome.wustl.edu	37	12	54577640	54577640	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:54577640C>G	ENST00000508394.2	-	2	147	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	SMUG1_ENST00000514685.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Missense_Mutation_p.E29Q|SMUG1_ENST00000506595.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000401977.2_Missense_Mutation_p.E29Q|SMUG1_ENST00000513838.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000337581.3_Missense_Mutation_p.E29Q|SMUG1_ENST00000505128.1_Missense_Mutation_p.E29Q|SMUG1_ENST00000514196.1_Missense_Mutation_p.E29Q	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	29					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AGGAAGCTCTCAGCCAAGCTT	0.602								Base excision repair (BER), DNA glycosylases																																									0													36.0	34.0	34.0					12																	54577640		2203	4300	6503	SO:0001583	missense	23583			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.85G>C	12.37:g.54577640C>G	ENSP00000424191:p.Glu29Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	p.E29Q	ENST00000508394.2	37	c.85	CCDS8874.1	12	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693370	0.15039	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.85	3.89	0.44902	Uracil-DNA glycosylase-like (2);	0.388273	0.26159	N	0.025994	T	0.21881	0.0527	N	0.16602	0.42	0.27316	N	0.957189	B;P;B	0.36990	0.011;0.577;0.433	B;B;B	0.34652	0.003;0.187;0.11	T	0.08391	-1.0724	10	0.16896	T	0.51	.	8.3714	0.32417	0.0:0.7537:0.1588:0.0875	.	29;29;29	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	Q	29	ENSP00000421206:E29Q;ENSP00000421139:E29Q;ENSP00000421894:E29Q;ENSP00000338606:E29Q;ENSP00000424191:E29Q;ENSP00000423629:E29Q;ENSP00000243112:E29Q;ENSP00000384828:E29Q;ENSP00000425974:E29Q;ENSP00000423083:E29Q;ENSP00000423457:E29Q;ENSP00000421790:E29Q;ENSP00000427547:E29Q;ENSP00000425426:E29Q	ENSP00000243112:E29Q	E	-	1	0	SMUG1	52863907	0.156000	0.22821	1.000000	0.80357	0.908000	0.53690	0.664000	0.25068	2.675000	0.91044	0.591000	0.81541	GAG	SMUG1	-	superfamily_Uracil-DNA_glycosylase-like		0.602	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3	C	NM_014311		54577640	-1	no_errors	ENST00000337581	ensembl	human	known	70_37	missense	SNP	0.997	G
SNAPC5	10302	genome.wustl.edu	37	15	66790039	66790039	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:66790039C>T	ENST00000316634.5	-	1	112	c.31G>A	c.(31-33)Gag>Aag	p.E11K	SNAPC5_ENST00000563480.2_Missense_Mutation_p.E11K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.E11K|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000566658.1_Missense_Mutation_p.E11K|SNAPC5_ENST00000307979.7_Missense_Mutation_p.E11K			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	11					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						GTCTCCTCCTCCTTGCGCAGT	0.672											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	61.0	64.0					15																	66790039		2201	4299	6500	SO:0001583	missense	10302			AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.31G>A	15.37:g.66790039C>T	ENSP00000319597:p.Glu11Lys	Somatic	1094	WXS	Illumina HiSeq	Phase_IV	A8K7N6|Q96CF3	Missense_Mutation	SNP	NULL	p.E11K	ENST00000316634.5	37	c.31	CCDS10217.1	15	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801880	0.70682	.	.	ENSG00000174446	ENST00000395589;ENST00000316634;ENST00000307979	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83225	0.5208	.	.	.	0.51767	D	0.999935	D	0.67145	0.996	D	0.77557	0.99	D	0.85450	0.1160	8	0.87932	D	0	-15.2745	18.7259	0.91713	0.0:1.0:0.0:0.0	.	11	O75971	SNPC5_HUMAN	K	11	.	ENSP00000308439:E11K	E	-	1	0	SNAPC5	64577093	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.400000	0.59709	2.517000	0.84864	0.650000	0.86243	GAG	SNAPC5	-	NULL		0.672	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC5	HGNC	protein_coding	OTTHUMT00000256905.2	C			66790039	-1	no_errors	ENST00000316634	ensembl	human	known	70_37	missense	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	242007304	242007304	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:242007304G>A	ENST00000310397.8	+	22	3136	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	SNED1_ENST00000342631.6_Missense_Mutation_p.E1046K|SNED1_ENST00000401884.1_Missense_Mutation_p.E1046K|SNED1_ENST00000405547.3_Missense_Mutation_p.E1046K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1046	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCGCCACCCTGAGGCCCTCAG	0.627																																																	0													38.0	43.0	42.0					2																	242007304		2080	4203	6283	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3136G>A	2.37:g.242007304G>A	ENSP00000308893:p.Glu1046Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.E1046K	ENST00000310397.8	37	c.3136	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467439	0.63625	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.92	3.1	0.35709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117011	0.37483	N	0.002072	T	0.39937	0.1097	L	0.27053	0.805	0.28185	N	0.92801	P;B;P	0.45428	0.828;0.006;0.858	B;B;B	0.42882	0.371;0.017;0.401	T	0.29336	-1.0015	10	0.59425	D	0.04	.	9.6345	0.39800	0.1639:0.0:0.8361:0.0	.	1046;1046;1046	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	K	1046	ENSP00000384871:E1046K;ENSP00000386007:E1046K;ENSP00000308893:E1046K;ENSP00000342992:E1046K	ENSP00000308893:E1046K	E	+	1	0	SNED1	241655977	1.000000	0.71417	0.106000	0.21319	0.796000	0.44982	3.477000	0.53151	0.484000	0.27630	0.491000	0.48974	GAG	SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.627	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	G	XM_059482		242007304	+1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.882	A
RPS20	6224	genome.wustl.edu	37	8	56986433	56986433	+	Intron	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:56986433C>G	ENST00000521262.1	-	3	357				RPS20_ENST00000009589.3_Intron|RPS20_ENST00000520490.1_Intron|RPS20_ENST00000519606.1_Intron|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000524349.1_Intron|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_Intron|RPS20_ENST00000519807.1_Intron|RPS20_ENST00000518875.1_Intron			P60866	RS20_HUMAN	ribosomal protein S20						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CACCGTTACTCAACACAATAG	0.378																																																	0													259.0	258.0	258.0					8																	56986433		876	1991	2867	SO:0001627	intron_variant	26795			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.104-106G>C	8.37:g.56986433C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4F4|B4DW28|P17075|Q5M8S9	RNA	SNP	-	NULL	ENST00000521262.1	37	NULL		8																																																																																			SNORD54	-	-		0.378	RPS20-003	KNOWN	basic|appris_principal	protein_coding	SNORD54	HGNC	protein_coding	OTTHUMT00000378166.1	C	NM_001023		56986433	-1	no_errors	ENST00000459159	ensembl	human	known	70_37	rna	SNP	0.997	G
SOGA3	387104	genome.wustl.edu	37	6	127834155	127834155	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:127834155C>T	ENST00000525778.1	-	4	2111	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	SOGA3_ENST00000481848.2_Missense_Mutation_p.E456K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E456K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E456K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E456K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	456					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCACATTTTCTAATTCATGG	0.318																																																	0													138.0	117.0	123.0					6																	127834155		1824	4101	5925	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1366G>A	6.37:g.127834155C>T	ENSP00000434570:p.Glu456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3166	p.E456K	ENST00000525778.1	37	c.1366	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.839779	0.97009	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37210	0.0995	M	0.82323	2.585	0.80722	D	1	P	0.47545	0.897	P	0.48873	0.593	T	0.32534	-0.9903	10	0.54805	T	0.06	-15.3566	19.7987	0.96497	0.0:1.0:0.0:0.0	.	456	Q5TF21	CF174_HUMAN	K	456	ENSP00000451768:E456K;ENSP00000357251:E456K;ENSP00000434570:E456K;ENSP00000435559:E456K	ENSP00000435559:E456K	E	-	1	0	C6orf174	127875848	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GAA	SOGA3	-	NULL		0.318	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127834155	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	T
SPA17	53340	genome.wustl.edu	37	11	124551305	124551305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:124551305G>T	ENST00000532692.1	+	2	1596	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Nonsense_Mutation_p.E59*			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	59					binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGATCCAGCAGAATGGGGGAG	0.343																																																	0													94.0	95.0	95.0					11																	124551305		2201	4299	6500	SO:0001587	stop_gained	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.175G>T	11.37:g.124551305G>T	ENSP00000432305:p.Glu59*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4F2|Q9BXF7	Nonsense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS	p.E59*	ENST00000532692.1	37	c.175	CCDS8450.1	11	.	.	.	.	.	.	.	.	.	.	G	49	15.320391	0.99830	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-21.4932	14.0841	0.64944	0.0:0.151:0.849:0.0	.	.	.	.	X	59	.	ENSP00000227135:E59X	E	+	1	0	SPA17	124056515	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.042000	0.64202	2.646000	0.89796	0.557000	0.71058	GAA	SPA17	-	pirsf_Sp17		0.343	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	G	NM_017425		124551305	+1	no_errors	ENST00000227135	ensembl	human	putative	70_37	nonsense	SNP	1.000	T
SPAG7	9552	genome.wustl.edu	37	17	4863200	4863200	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:4863200C>G	ENST00000206020.3	-	6	496	c.429G>C	c.(427-429)caG>caC	p.Q143H	SPAG7_ENST00000575142.1_Missense_Mutation_p.Q132H|SPAG7_ENST00000573366.1_Missense_Mutation_p.Q92H	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	143						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCTCTTGCCTCTGGGCCAGCT	0.667																																																	0													43.0	47.0	45.0					17																	4863200		2047	4187	6234	SO:0001583	missense	9552			AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.429G>C	17.37:g.4863200C>G	ENSP00000206020:p.Gln143His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EU5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd	p.Q143H	ENST00000206020.3	37	c.429	CCDS42240.1	17	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524281	0.27299	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.1	4.11	0.48088	.	0.175170	0.51477	D	0.000092	T	0.13157	0.0319	N	0.08118	0	0.30018	N	0.814615	P	0.48640	0.913	B	0.37601	0.254	T	0.04413	-1.0953	9	0.52906	T	0.07	-9.5784	7.9539	0.30031	0.0:0.82:0.0:0.18	.	143	O75391	SPAG7_HUMAN	H	143	.	ENSP00000206020:Q143H	Q	-	3	2	SPAG7	4803923	0.016000	0.18221	1.000000	0.80357	0.404000	0.30871	0.029000	0.13666	2.652000	0.90054	0.561000	0.74099	CAG	SPAG7	-	pirsf_Sperm-assoc_antigen_PAG7		0.667	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG7	HGNC	protein_coding	OTTHUMT00000438747.1	C	NM_004890		4863200	-1	no_errors	ENST00000206020	ensembl	human	known	70_37	missense	SNP	1.000	G
SPATA31A2	642265	genome.wustl.edu	37	9	39887980	39887980	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:39887980G>A	ENST00000456183.2	+	4	996	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	323					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTCAGCTCTGATGGCCAGAA	0.488																																																	0													1.0	1.0	1.0					9																	39887980		34	62	96	SO:0001583	missense	647060					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A2"""	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.967G>A	9.37:g.39887980G>A	ENSP00000406957:p.Asp323Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.D323N	ENST00000456183.2	37	c.967	CCDS43809.1	9	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937999	0.18206	.	.	ENSG00000204848	ENST00000456183	T	0.06933	3.24	1.27	0.25	0.15535	.	1.396580	0.04621	N	0.402076	T	0.20210	0.0486	L	0.58510	1.815	0.09310	N	1	D	0.64830	0.994	P	0.61477	0.889	T	0.14035	-1.0487	10	0.62326	D	0.03	-1.7154	5.1979	0.15249	0.0:0.3746:0.6254:0.0	.	323	Q5RGS2	F75A2_HUMAN	N	323	ENSP00000406957:D323N	ENSP00000406957:D323N	D	+	1	0	FAM75A2	39877980	0.002000	0.14202	0.037000	0.18230	0.090000	0.18270	0.074000	0.14662	0.125000	0.18397	0.121000	0.15741	GAT	SPATA31A2	-	NULL		0.488	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A2	HGNC	protein_coding	OTTHUMT00000037739.1	G	NM_001040065		39887980	+1	no_errors	ENST00000456183	ensembl	human	known	70_37	missense	SNP	0.040	A
SPEN	23013	genome.wustl.edu	37	1	16259513	16259513	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:16259513G>A	ENST00000375759.3	+	11	6982	c.6778G>A	c.(6778-6780)Gag>Aag	p.E2260K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2260	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGCCTTCTGAGGAAGGAAT	0.562																																																	0													86.0	93.0	90.0					1																	16259513		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6778G>A	1.37:g.16259513G>A	ENSP00000364912:p.Glu2260Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2260K	ENST00000375759.3	37	c.6778	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	2.639	-0.284689	0.05605	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	4.68	2.56	0.30785	.	.	.	.	.	T	0.07369	0.0186	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.26121	-1.0112	9	0.08599	T	0.76	-5.3821	13.3673	0.60692	0.0:0.4039:0.5961:0.0	.	2260	Q96T58	MINT_HUMAN	K	2260	ENSP00000364912:E2260K	ENSP00000364912:E2260K	E	+	1	0	SPEN	16132100	0.294000	0.24380	0.479000	0.27329	0.118000	0.20060	1.410000	0.34691	2.139000	0.66308	0.462000	0.41574	GAG	SPEN	-	NULL		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16259513	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.147	A
SPG7	6687	genome.wustl.edu	37	16	89597205	89597205	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89597205G>C	ENST00000268704.2	+	7	991	c.976G>C	c.(976-978)Gat>Cat	p.D326H	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.D326H	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	326					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CGAGTTTGTGGATTATCTGAA	0.582																																																	0													70.0	71.0	71.0					16																	89597205		2198	4300	6498	SO:0001583	missense	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.976G>C	16.37:g.89597205G>C	ENSP00000268704:p.Asp326His	Somatic		WXS	Illumina HiSeq	Phase_IV	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.D326H	ENST00000268704.2	37	c.976	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589285	0.66105	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	T;T	0.60171	0.21;0.21	5.59	5.59	0.84812	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68868	-0.5295	10	0.26408	T	0.33	-1.6314	19.9595	0.97236	0.0:0.0:1.0:0.0	.	326;326	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	H	326	ENSP00000268704:D326H;ENSP00000341157:D326H	ENSP00000268704:D326H	D	+	1	0	SPG7	88124706	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	9.597000	0.98273	2.797000	0.96272	0.563000	0.77884	GAT	SPG7	-	tigrfam_FtsH		0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	G	NM_003119		89597205	+1	no_errors	ENST00000268704	ensembl	human	known	70_37	missense	SNP	1.000	C
SPIC	121599	genome.wustl.edu	37	12	101880137	101880137	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:101880137G>A	ENST00000551346.1	+	6	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	SPIC_ENST00000299272.5_Missense_Mutation_p.R112Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	112					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAGAAGCTCCGACTGTTTGAA	0.428																																																	0													101.0	99.0	99.0					12																	101880137		2203	4300	6503	SO:0001583	missense	121599			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.335G>A	12.37:g.101880137G>A	ENSP00000448580:p.Arg112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R112Q	ENST00000551346.1	37	c.335	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005952	0.93287	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.53423	0.62;0.62	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	N	0.25957	0.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39800	-0.9596	10	0.05833	T	0.94	-14.9306	17.9863	0.89157	0.0:0.0:1.0:0.0	.	112	Q8N5J4	SPIC_HUMAN	Q	112	ENSP00000448580:R112Q;ENSP00000299272:R112Q	ENSP00000299272:R112Q	R	+	2	0	SPIC	100404268	1.000000	0.71417	0.996000	0.52242	0.811000	0.45836	9.180000	0.94867	2.323000	0.78572	0.650000	0.86243	CGA	SPIC	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets		0.428	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	G	NM_152323		101880137	+1	no_errors	ENST00000299272	ensembl	human	known	70_37	missense	SNP	0.999	A
SPICE1	152185	genome.wustl.edu	37	3	113176079	113176079	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113176079G>C	ENST00000295872.4	-	13	1820	c.1561C>G	c.(1561-1563)Ctg>Gtg	p.L521V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	521					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTTGGCCAGATTCATGTTA	0.468																																																	0													98.0	96.0	97.0					3																	113176079		2203	4300	6503	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1561C>G	3.37:g.113176079G>C	ENSP00000295872:p.Leu521Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.L521V	ENST00000295872.4	37	c.1561	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	3.133	-0.178095	0.06380	.	.	ENSG00000163611	ENST00000295872	T	0.33438	1.41	5.42	2.61	0.31194	.	0.969175	0.08529	N	0.932359	T	0.36468	0.0968	M	0.62723	1.935	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.38824	-0.9643	10	0.41790	T	0.15	0.1248	15.7104	0.77623	0.0:0.5812:0.4188:0.0	.	417;521	B3KX77;Q8N0Z3	.;SPICE_HUMAN	V	521	ENSP00000295872:L521V	ENSP00000295872:L521V	L	-	1	2	SPICE1	114658769	0.003000	0.15002	0.058000	0.19502	0.004000	0.04260	0.690000	0.25451	0.249000	0.21456	-0.304000	0.09214	CTG	SPICE1	-	NULL		0.468	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	G	NM_144718		113176079	-1	no_errors	ENST00000295872	ensembl	human	known	70_37	missense	SNP	0.011	C
SPICE1	152185	genome.wustl.edu	37	3	113187197	113187197	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113187197G>A	ENST00000295872.4	-	10	1203	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	315					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGTGCTACCTGATGATATGTT	0.368																																																	0													122.0	123.0	123.0					3																	113187197		2203	4300	6503	SO:0001583	missense	152185			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.944C>T	3.37:g.113187197G>A	ENSP00000295872:p.Ser315Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN72|Q8WUX6	Missense_Mutation	SNP	NULL	p.S315L	ENST00000295872.4	37	c.944	CCDS2973.1	3	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660418	0.47572	.	.	ENSG00000163611	ENST00000295872	T	0.32753	1.44	5.31	4.24	0.50183	.	0.533581	0.19865	N	0.104337	T	0.27731	0.0682	L	0.51422	1.61	0.09310	N	1	B;B	0.29646	0.253;0.253	B;B	0.28232	0.087;0.087	T	0.18241	-1.0343	10	0.52906	T	0.07	-7.826	10.5585	0.45131	0.0809:0.0:0.7832:0.1359	.	211;315	B3KX77;Q8N0Z3	.;SPICE_HUMAN	L	315	ENSP00000295872:S315L	ENSP00000295872:S315L	S	-	2	0	SPICE1	114669887	0.140000	0.22579	0.026000	0.17262	0.292000	0.27327	1.598000	0.36740	2.498000	0.84270	0.455000	0.32223	TCA	SPICE1	-	NULL		0.368	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	G	NM_144718		113187197	-1	no_errors	ENST00000295872	ensembl	human	known	70_37	missense	SNP	0.001	A
SPRTN	83932	genome.wustl.edu	37	1	231474190	231474190	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:231474190G>A	ENST00000295050.7	+	1	397	c.61G>A	c.(61-63)Gag>Aag	p.E21K	SPRTN_ENST00000391858.4_Missense_Mutation_p.E21K|EXOC8_ENST00000366645.1_5'Flank|EXOC8_ENST00000360394.2_5'Flank|SPRTN_ENST00000008440.9_Missense_Mutation_p.E21K	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	21					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GCAGGAGGCGGAGCGCGATCA	0.607																																																	0													115.0	105.0	108.0					1																	231474190		2203	4300	6503	SO:0001583	missense	83932			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.61G>A	1.37:g.231474190G>A	ENSP00000295050:p.Glu21Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.E21K	ENST00000295050.7	37	c.61	CCDS1594.1	1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131752	0.06753	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269	T	0.43294	0.95	4.67	-0.827	0.10802	.	1.221410	0.05412	N	0.542674	T	0.30230	0.0758	L	0.47716	1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.22800	-1.0206	10	0.05959	T	0.93	-0.0876	6.4768	0.22041	0.2258:0.2766:0.4976:0.0	.	21;21;21	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	K	21	ENSP00000295050:E21K	ENSP00000008440:E21K	E	+	1	0	C1orf124	229540813	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.634000	0.24614	-0.053000	0.13289	0.462000	0.41574	GAG	SPRTN	-	NULL		0.607	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	G	NM_032018		231474190	+1	no_errors	ENST00000295050	ensembl	human	known	70_37	missense	SNP	0.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64519864	64519864	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:64519864G>C	ENST00000355086.3	+	19	2856	c.2332G>C	c.(2332-2334)Gag>Cag	p.E778Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E715Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E755Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	778	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCGTGCATCTGAGGACTGGTG	0.522																																																	0													180.0	144.0	156.0					12																	64519864		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2332G>C	12.37:g.64519864G>C	ENSP00000347198:p.Glu778Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E778Q	ENST00000355086.3	37	c.2332	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990360	0.54041	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.53640	0.61;0.61;0.61	5.69	5.69	0.88448	Src homology-3 domain (4);	0.000000	0.35067	U	0.003461	T	0.31575	0.0801	N	0.15975	0.35	0.49483	D	0.999797	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.005	T	0.10965	-1.0607	9	.	.	.	.	15.3081	0.74008	0.0:0.1393:0.8607:0.0	.	778;715	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	Q	778;755;715	ENSP00000347198:E778Q;ENSP00000350480:E755Q;ENSP00000437948:E715Q	.	E	+	1	0	SRGAP1	62806131	1.000000	0.71417	0.956000	0.39512	0.987000	0.75469	4.683000	0.61679	2.676000	0.91093	0.561000	0.74099	GAG	SRGAP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.522	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64519864	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	0.996	C
SRGAP1	57522	genome.wustl.edu	37	12	64521827	64521827	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:64521827G>A	ENST00000355086.3	+	21	3251	c.2727G>A	c.(2725-2727)cgG>cgA	p.R909R	SRGAP1_ENST00000543397.1_Silent_p.R846R|SRGAP1_ENST00000357825.3_Silent_p.R886R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	909	Poly-Arg.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTCCTGAGCGGAGGCGCAGGC	0.617																																																	0													57.0	52.0	54.0					12																	64521827		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2727G>A	12.37:g.64521827G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R909	ENST00000355086.3	37	c.2727	CCDS8967.1	12																																																																																			SRGAP1	-	NULL		0.617	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64521827	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	0.961	A
SSRP1	6749	genome.wustl.edu	37	11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:57099862C>T	ENST00000278412.2	-	7	1133	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACTCGTTCATGTTCAGAG	0.522																																					Colon(89;1000 1340 6884 23013 41819)												0													219.0	166.0	184.0					11																	57099862		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.867G>A	11.37:g.57099862C>T	ENSP00000278412:p.Met289Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BJG8	Missense_Mutation	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.M289I	ENST00000278412.2	37	c.867	CCDS7952.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221071	0.58560	.	.	ENSG00000149136	ENST00000278412;ENST00000526696	T;T	0.39056	1.1;1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.43701	1.375	0.80722	D	1	B	0.22414	0.069	B	0.15870	0.014	T	0.08973	-1.0696	10	0.38643	T	0.18	-34.2391	19.5069	0.95121	0.0:1.0:0.0:0.0	.	289	Q08945	SSRP1_HUMAN	I	289;192	ENSP00000278412:M289I;ENSP00000431154:M192I	ENSP00000278412:M289I	M	-	3	0	SSRP1	56856438	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	ATG	SSRP1	-	pfam_SSRP1_dom		0.522	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	C	NM_003146		57099862	-1	no_errors	ENST00000278412	ensembl	human	known	70_37	missense	SNP	1.000	T
ST18	9705	genome.wustl.edu	37	8	53092782	53092782	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:53092782C>T	ENST00000276480.7	-	9	860	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTCGGGGCTTCATTAGCAGGG	0.512																																																	0													242.0	206.0	218.0					8																	53092782		2203	4300	6503	SO:0001583	missense	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.177G>A	8.37:g.53092782C>T	ENSP00000276480:p.Met59Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.M59I	ENST00000276480.7	37	c.177	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.130073	0.94473	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.51071	0.83;0.72	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.69672	-0.5082	10	0.62326	D	0.03	-22.5124	19.4582	0.94904	0.0:1.0:0.0:0.0	.	59	O60284	ST18_HUMAN	I	59	ENSP00000276480:M59I;ENSP00000428521:M59I	ENSP00000276480:M59I	M	-	3	0	ST18	53255335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.575000	0.67430	2.607000	0.88179	0.655000	0.94253	ATG	ST18	-	NULL		0.512	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	C			53092782	-1	no_errors	ENST00000276480	ensembl	human	known	70_37	missense	SNP	1.000	T
STAB1	23166	genome.wustl.edu	37	3	52549479	52549479	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:52549479C>G	ENST00000321725.6	+	37	3981	c.3905C>G	c.(3904-3906)tCc>tGc	p.S1302C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1302					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGCTTCTCCTTCTCCCGG	0.617																																																	0													82.0	75.0	78.0					3																	52549479		2202	4300	6502	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3905C>G	3.37:g.52549479C>G	ENSP00000312946:p.Ser1302Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S1302C	ENST00000321725.6	37	c.3905	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856210	0.51376	.	.	ENSG00000010327	ENST00000321725	T	0.03094	4.05	4.55	3.67	0.42095	.	0.598474	0.16909	N	0.194560	T	0.03915	0.0110	L	0.29908	0.895	0.23616	N	0.997282	P	0.43287	0.802	B	0.43301	0.415	T	0.39014	-0.9634	10	0.51188	T	0.08	-30.8785	7.8209	0.29286	0.0:0.8897:0.0:0.1103	.	1302	Q9NY15	STAB1_HUMAN	C	1302	ENSP00000312946:S1302C	ENSP00000312946:S1302C	S	+	2	0	STAB1	52524519	0.027000	0.19231	0.850000	0.33497	0.907000	0.53573	1.690000	0.37711	2.520000	0.84964	0.563000	0.77884	TCC	STAB1	-	NULL		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	C	NM_015136		52549479	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.465	G
ST3GAL6	10402	genome.wustl.edu	37	3	98512551	98512551	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:98512551C>T	ENST00000483910.1	+	10	1231	c.942C>T	c.(940-942)ctC>ctT	p.L314L	ST3GAL6_ENST00000265261.6_Silent_p.L196L|ST3GAL6_ENST00000394162.1_Silent_p.L314L|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	314					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAGCAGCTCTTTTTGAAGG	0.353																																																	0													111.0	116.0	114.0					3																	98512551		2203	4300	6503	SO:0001819	synonymous_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.942C>T	3.37:g.98512551C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L314	ENST00000483910.1	37	c.942	CCDS2933.1	3																																																																																			ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.353	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	C	NM_006100		98512551	+1	no_errors	ENST00000394162	ensembl	human	known	70_37	silent	SNP	0.978	T
STARD8	9754	genome.wustl.edu	37	X	67943510	67943510	+	Nonsense_Mutation	SNP	G	G	T	rs368199805		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67943510G>T	ENST00000252336.6	+	12	2974	c.2602G>T	c.(2602-2604)Gag>Tag	p.E868*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.E868*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.E948*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	868	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCATCCACAGAGGTGGCAGC	0.667																																																	0													10.0	12.0	12.0					X																	67943510		2177	4261	6438	SO:0001587	stop_gained	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2602G>T	X.37:g.67943510G>T	ENSP00000252336:p.Glu868*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E948*	ENST00000252336.6	37	c.2842	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.211084	0.99101	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	.	.	.	4.28	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2517	0.43372	0.0:0.0:0.8011:0.1989	.	.	.	.	X	868;948;868	.	ENSP00000252336:E868X	E	+	1	0	STARD8	67860235	1.000000	0.71417	0.024000	0.17045	0.182000	0.23217	9.119000	0.94362	0.803000	0.34113	0.600000	0.82982	GAG	STARD8	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.667	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67943510	+1	no_errors	ENST00000374599	ensembl	human	known	70_37	nonsense	SNP	0.992	T
STARD8	9754	genome.wustl.edu	37	X	67943675	67943675	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:67943675G>C	ENST00000252336.6	+	12	3139	c.2767G>C	c.(2767-2769)Gtg>Ctg	p.V923L	STARD8_ENST00000374597.3_Missense_Mutation_p.V923L|STARD8_ENST00000374599.3_Missense_Mutation_p.V1003L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	923	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCGCGACTTTGTGGTGCTTCG	0.632																																																	0													35.0	29.0	31.0					X																	67943675		2198	4296	6494	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2767G>C	X.37:g.67943675G>C	ENSP00000252336:p.Val923Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.V1003L	ENST00000252336.6	37	c.3007	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256429	0.22965	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.37584	1.19;1.19;1.19	4.25	3.36	0.38483	Lipid-binding START (3);START-like domain (1);	0.316033	0.25881	N	0.027681	T	0.25938	0.0632	L	0.31578	0.945	0.28564	N	0.910974	B;B	0.10296	0.001;0.003	B;B	0.21151	0.003;0.033	T	0.15321	-1.0441	10	0.38643	T	0.18	.	9.8053	0.40789	0.0:0.4018:0.5982:0.0	.	1003;923	Q92502-2;Q92502	.;STAR8_HUMAN	L	923;1003;923	ENSP00000252336:V923L;ENSP00000363727:V1003L;ENSP00000363725:V923L	ENSP00000252336:V923L	V	+	1	0	STARD8	67860400	0.250000	0.23951	0.915000	0.36163	0.598000	0.36846	0.479000	0.22228	0.800000	0.34041	0.594000	0.82650	GTG	STARD8	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	G	NM_014725		67943675	+1	no_errors	ENST00000374599	ensembl	human	known	70_37	missense	SNP	0.533	C
STX10	8677	genome.wustl.edu	37	19	13260417	13260417	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:13260417G>C	ENST00000587230.1	-	3	270				STX10_ENST00000343587.5_Intron|IER2_ENST00000588173.1_5'Flank|IER2_ENST00000292433.3_5'Flank|IER2_ENST00000587885.1_5'Flank|STX10_ENST00000242770.5_Intron|STX10_ENST00000589083.1_Intron	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10						Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CGTGGGCTGAGAGTCAAGGGT	0.627																																																	0													66.0	69.0	68.0					19																	13260417		2203	4300	6503	SO:0001627	intron_variant	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.206-10C>G	19.37:g.13260417G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC41|Q6IAP4|Q96AE8	Silent	SNP	pfam_Syntaxin-6_N,superfamily_t-SNARE	p.V69	ENST00000587230.1	37	c.207	CCDS32922.1	19																																																																																			STX10	-	pfam_Syntaxin-6_N		0.627	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	HGNC	protein_coding	OTTHUMT00000452918.1	G	NM_003765		13260417	-1	no_errors	ENST00000440593	ensembl	human	known	70_37	silent	SNP	0.076	C
SUGP2	10147	genome.wustl.edu	37	19	19136583	19136583	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:19136583C>G	ENST00000601879.1	-	3	871	c.574G>C	c.(574-576)Gac>Cac	p.D192H	SUGP2_ENST00000452918.2_Missense_Mutation_p.D192H|SUGP2_ENST00000337018.6_Missense_Mutation_p.D192H|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.D206H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	192					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTCCACGTCATAATCCCGA	0.532																																																	0													95.0	81.0	86.0					19																	19136583		2203	4300	6503	SO:0001583	missense	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.574G>C	19.37:g.19136583C>G	ENSP00000472286:p.Asp192His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.D192H	ENST00000601879.1	37	c.574	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538668	0.45176	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.22945	1.96;1.93;1.96	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000019	T	0.38241	0.1033	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.25882	-1.0119	10	0.87932	D	0	-23.7632	15.8346	0.78789	0.0:1.0:0.0:0.0	.	192;192	A8K5G0;Q8IX01	.;SUGP2_HUMAN	H	192	ENSP00000337926:D192H;ENSP00000332373:D192H;ENSP00000389380:D192H	ENSP00000332373:D192H	D	-	1	0	SUGP2	18997583	0.921000	0.31238	0.018000	0.16275	0.671000	0.39405	4.392000	0.59659	2.428000	0.82296	0.313000	0.20887	GAC	SUGP2	-	NULL		0.532	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	C	NM_001017392		19136583	-1	no_errors	ENST00000337018	ensembl	human	known	70_37	missense	SNP	0.201	G
SULT1B1	27284	genome.wustl.edu	37	4	70596298	70596298	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:70596298C>T	ENST00000310613.3	-	7	996	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATTGTCCTTCATCACTTCAA	0.368																																																	0													170.0	156.0	161.0					4																	70596298		2203	4299	6502	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.699G>A	4.37:g.70596298C>T	ENSP00000308770:p.Met233Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M233I	ENST00000310613.3	37	c.699	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054595	0.75960	.	.	ENSG00000173597	ENST00000310613	T	0.02525	4.26	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.000000	0.56097	D	0.000037	T	0.23846	0.0577	H	0.96111	3.77	0.54753	D	0.999982	D	0.76494	0.999	D	0.91635	0.999	T	0.36553	-0.9743	10	0.87932	D	0	.	14.1779	0.65555	0.0:1.0:0.0:0.0	.	233	O43704	ST1B1_HUMAN	I	233	ENSP00000308770:M233I	ENSP00000308770:M233I	M	-	3	0	SULT1B1	70630887	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.749000	0.68704	2.006000	0.58801	0.467000	0.42956	ATG	SULT1B1	-	pfam_Sulfotransferase_dom		0.368	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70596298	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	1.000	T
SUN5	140732	genome.wustl.edu	37	20	31573640	31573640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:31573640G>A	ENST00000356173.3	-	11	891	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	SUN5_ENST00000375523.3_Nonsense_Mutation_p.Q242*	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	267	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TAAACCTTCTGAGCCAATTGG	0.552																																																	0													159.0	118.0	132.0					20																	31573640		2203	4300	6503	SO:0001587	stop_gained	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.799C>T	20.37:g.31573640G>A	ENSP00000348496:p.Gln267*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ82|Q5T9R0	Nonsense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.Q267*	ENST00000356173.3	37	c.799	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.381829	0.95967	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	.	.	.	5.71	4.7	0.59300	.	0.393945	0.28499	N	0.015135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-24.4905	10.2235	0.43212	0.0:0.0:0.7552:0.2448	.	.	.	.	X	267;242	.	ENSP00000348496:Q267X	Q	-	1	0	SUN5	31037301	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.393000	0.34497	2.688000	0.91661	0.655000	0.94253	CAG	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.552	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	G	NM_080675		31573640	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SUPV3L1	6832	genome.wustl.edu	37	10	70945777	70945777	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:70945777G>A	ENST00000359655.4	+	2	366	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	102					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTACAAGAGGAAAGAAA	0.343																																																	0													126.0	136.0	133.0					10																	70945777		2203	4300	6503	SO:0001819	synonymous_variant	6832			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.306G>A	10.37:g.70945777G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K301|O43630	Silent	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.K102	ENST00000359655.4	37	c.306	CCDS7287.1	10																																																																																			SUPV3L1	-	NULL		0.343	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	G	NM_003171		70945777	+1	no_errors	ENST00000359655	ensembl	human	known	70_37	silent	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113141679	113141679	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:113141679C>G	ENST00000401783.2	-	44	10692	c.10356G>C	c.(10354-10356)ctG>ctC	p.L3452L	SVEP1_ENST00000297826.5_Silent_p.L1378L|SVEP1_ENST00000374469.1_Silent_p.L3429L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3452	Sushi 34. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAACACTCCTCAGGAAACCCT	0.398																																																	0													116.0	106.0	109.0					9																	113141679		1888	4130	6018	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10356G>C	9.37:g.113141679C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L3452	ENST00000401783.2	37	c.10356	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113141679	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	silent	SNP	0.190	G
SVEP1	79987	genome.wustl.edu	37	9	113208160	113208160	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:113208160C>T	ENST00000401783.2	-	26	4756	c.4420G>A	c.(4420-4422)Gat>Aat	p.D1474N	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1474	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCCGTTATCAACTGCATAG	0.458																																																	0													174.0	167.0	170.0					9																	113208160		1962	4162	6124	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4420G>A	9.37:g.113208160C>T	ENSP00000384917:p.Asp1474Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D1474N	ENST00000401783.2	37	c.4420	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461081	0.63513	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73152	0.15;0.15;-0.72	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.190460	0.56097	D	0.000038	T	0.59445	0.2194	N	0.14661	0.345	0.43179	D	0.994998	P;B	0.40578	0.722;0.324	B;B	0.39738	0.308;0.243	T	0.63143	-0.6703	10	0.44086	T	0.13	.	19.75	0.96263	0.0:1.0:0.0:0.0	.	1474;1474	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1474;1451;1474	ENSP00000384917:D1474N;ENSP00000363593:D1451N;ENSP00000304118:D1474N	ENSP00000304118:D1474N	D	-	1	0	SVEP1	112247981	1.000000	0.71417	0.792000	0.32020	0.077000	0.17291	7.383000	0.79741	2.749000	0.94314	0.655000	0.94253	GAT	SVEP1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113208160	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	T
SWI5	375757	genome.wustl.edu	37	9	131038452	131038452	+	Missense_Mutation	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131038452T>C	ENST00000320188.5	+	1	28	c.28T>C	c.(28-30)Tgg>Cgg	p.W10R	SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000608796.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000421699.2_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	10					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GAGGGACCTGTGGCGTCACAA	0.637																																																	0													41.0	49.0	46.0					9																	131038452		2036	4138	6174	SO:0001583	missense	375757			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.28T>C	9.37:g.131038452T>C	ENSP00000316609:p.Trp10Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.W10R	ENST00000320188.5	37	c.28	CCDS43883.1	9	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131333	0.56828	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.0	-7.49	0.01355	.	.	.	.	.	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30060	-0.9991	8	0.87932	D	0	.	3.5492	0.07840	0.1219:0.4354:0.2797:0.1631	.	10	Q1ZZU3	SWI5_HUMAN	R	10	.	ENSP00000316609:W10R	W	+	1	0	SWI5	130078273	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.501000	0.02281	-1.231000	0.02557	0.455000	0.32223	TGG	SWI5	-	NULL		0.637	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		T	NM_001040011		131038452	+1	no_errors	ENST00000320188	ensembl	human	known	70_37	missense	SNP	0.000	C
SURF4	6836	genome.wustl.edu	37	9	136230621	136230621	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:136230621G>A	ENST00000371989.3	-	6	687	c.558C>T	c.(556-558)atC>atT	p.I186I	SURF4_ENST00000545297.1_Missense_Mutation_p.S124L|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	186					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CTGTGCCCACGATGTTCTGGA	0.403																																																	0													62.0	61.0	62.0					9																	136230621		2203	4300	6503	SO:0001819	synonymous_variant	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.558C>T	9.37:g.136230621G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	pfam_Surf4	p.S124L	ENST00000371989.3	37	c.371	CCDS6968.1	9	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835344	0.32421	.	.	ENSG00000148248	ENST00000545297	.	.	.	5.44	-2.87	0.05700	.	.	.	.	.	T	0.28632	0.0709	.	.	.	0.23095	N	0.998302	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	7	0.87932	D	0	-0.0408	6.1476	0.20294	0.3583:0.3345:0.3072:0.0	.	124	B7Z6A4	.	L	124	.	ENSP00000446061:S124L	S	-	2	0	SURF4	135220442	0.004000	0.15560	0.953000	0.39169	0.990000	0.78478	-1.101000	0.03336	-0.954000	0.03640	0.467000	0.42956	TCG	SURF4	-	NULL		0.403	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF4	HGNC	protein_coding	OTTHUMT00000054886.1	G	NM_033161		136230621	-1	no_errors	ENST00000545297	ensembl	human	known	70_37	missense	SNP	0.862	A
SWT1	54823	genome.wustl.edu	37	1	185135765	185135765	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:185135765C>T	ENST00000367500.4	+	3	311	c.146C>T	c.(145-147)tCa>tTa	p.S49L	SWT1_ENST00000367501.3_Missense_Mutation_p.S49L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	49										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGATCAGTTTCATCAGAAAAG	0.303																																																	0													54.0	59.0	58.0					1																	185135765		2203	4293	6496	SO:0001583	missense	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.146C>T	1.37:g.185135765C>T	ENSP00000356470:p.Ser49Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.S49L	ENST00000367500.4	37	c.146	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410561	0.25465	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.52526	0.66;0.66;0.66	4.26	3.35	0.38373	.	0.404996	0.18143	N	0.150359	T	0.42810	0.1219	L	0.59436	1.845	0.09310	N	0.999999	B	0.33694	0.421	B	0.34991	0.193	T	0.42682	-0.9437	10	0.72032	D	0.01	.	7.7867	0.29095	0.0:0.8861:0.0:0.1139	.	49	Q5T5J6	SWT1_HUMAN	L	49	ENSP00000356471:S49L;ENSP00000356470:S49L;ENSP00000401413:S49L	ENSP00000356470:S49L	S	+	2	0	SWT1	183402388	0.970000	0.33590	0.213000	0.23690	0.549000	0.35272	2.989000	0.49393	1.115000	0.41800	0.557000	0.71058	TCA	SWT1	-	NULL		0.303	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	C	NM_017673		185135765	+1	no_errors	ENST00000367500	ensembl	human	known	70_37	missense	SNP	0.162	T
SYBU	55638	genome.wustl.edu	37	8	110587800	110587800	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:110587800C>T	ENST00000422135.1	-	8	1842	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	SYBU_ENST00000529175.1_Missense_Mutation_p.D237N|SYBU_ENST00000528647.1_Missense_Mutation_p.D442N|SYBU_ENST00000532779.1_Missense_Mutation_p.D375N|SYBU_ENST00000408889.3_Missense_Mutation_p.D324N|SYBU_ENST00000529690.1_Missense_Mutation_p.D313N|SYBU_ENST00000276646.9_Missense_Mutation_p.D443N|SYBU_ENST00000399066.3_Missense_Mutation_p.D440N|SYBU_ENST00000440310.1_Missense_Mutation_p.D443N|SYBU_ENST00000533895.1_Missense_Mutation_p.D442N|SYBU_ENST00000408908.2_Missense_Mutation_p.D443N|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000419099.1_Missense_Mutation_p.D442N|SYBU_ENST00000533171.1_Missense_Mutation_p.D443N|SYBU_ENST00000424158.2_Missense_Mutation_p.D448N|SYBU_ENST00000533065.1_Missense_Mutation_p.D324N|SYBU_ENST00000446070.2_Missense_Mutation_p.D442N|SYBU_ENST00000433638.1_Missense_Mutation_p.D443N|SYBU_ENST00000528331.1_Missense_Mutation_p.D324N	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	443					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ACTATCTCATCGAACAAATCT	0.552																																																	0													149.0	151.0	150.0					8																	110587800		2072	4213	6285	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1327G>A	8.37:g.110587800C>T	ENSP00000407118:p.Asp443Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.D443N	ENST00000422135.1	37	c.1327	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401216	0.25291	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.98	5.1	0.69264	.	0.375243	0.31936	N	0.006826	T	0.46444	0.1393	L	0.58101	1.795	0.39830	D	0.972965	P;B;P;P;P	0.48230	0.907;0.335;0.51;0.519;0.733	B;B;B;B;B	0.33521	0.131;0.038;0.165;0.084;0.084	T	0.56571	-0.7957	9	0.54805	T	0.06	-8.2349	15.8962	0.79336	0.0:0.7256:0.2744:0.0	.	313;375;442;443;440	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	N	442;448;375;440;442;324;237;443;442;443;442;443;443;443;324;324;313;443	.	ENSP00000276646:D443N	D	-	1	0	SYBU	110656976	0.998000	0.40836	0.164000	0.22755	0.012000	0.07955	3.836000	0.55813	1.513000	0.48852	0.591000	0.81541	GAT	SYBU	-	NULL		0.552	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	C	NM_017786		110587800	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.989	T
SYNE1	23345	genome.wustl.edu	37	6	152754964	152754964	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:152754964G>A	ENST00000367255.5	-	34	5028	c.4427C>T	c.(4426-4428)tCa>tTa	p.S1476L	SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1483L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1483L|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1476L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1476L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1546L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1476					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGGCAGATGACGAAGTTTC	0.378										HNSCC(10;0.0054)																																							0													168.0	155.0	160.0					6																	152754964		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4427C>T	6.37:g.152754964G>A	ENSP00000356224:p.Ser1476Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1476L	ENST00000367255.5	37	c.4427	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533348	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.54071	1.75;1.75;1.75;1.75;0.59;1.75	5.83	5.83	0.93111	.	0.138538	0.33382	N	0.004972	T	0.45094	0.1325	M	0.66939	2.045	0.80722	D	1	B;B;B;B;B	0.32573	0.376;0.046;0.328;0.046;0.046	B;B;B;B;B	0.34242	0.154;0.031;0.178;0.031;0.02	T	0.41360	-0.9513	10	0.33940	T	0.23	.	20.1099	0.97909	0.0:0.0:1.0:0.0	.	1459;1476;1476;1476;1483	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	L	1476;1483;1476;1483;1546;1476	ENSP00000356224:S1476L;ENSP00000396024:S1483L;ENSP00000265368:S1476L;ENSP00000390975:S1483L;ENSP00000341887:S1546L;ENSP00000356222:S1476L	ENSP00000265368:S1476L	S	-	2	0	SYNE1	152796657	0.998000	0.40836	0.934000	0.37439	0.992000	0.81027	3.545000	0.53648	2.753000	0.94483	0.585000	0.79938	TCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152754964	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.992	A
SYNE2	23224	genome.wustl.edu	37	14	64488655	64488655	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:64488655C>G	ENST00000344113.4	+	37	5645	c.5433C>G	c.(5431-5433)ctC>ctG	p.L1811L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L1811L|SYNE2_ENST00000358025.3_Silent_p.L1811L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1811					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCCTGAACTCTCTGAATTGA	0.318																																																	0													93.0	88.0	90.0					14																	64488655		1839	4088	5927	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5433C>G	14.37:g.64488655C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1811	ENST00000344113.4	37	c.5433	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64488655	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	1.000	G
SYT5	6861	genome.wustl.edu	37	19	55690439	55690439	+	5'UTR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:55690439G>C	ENST00000354308.3	-	0	340				CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Silent_p.L45L|SYT5_ENST00000537500.1_5'UTR	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V						calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTTTCTGCAGAGACACTCAA	0.627																																																	0													18.0	25.0	23.0					19																	55690439		2194	4289	6483	SO:0001623	5_prime_UTR_variant	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.-30C>G	19.37:g.55690439G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWJ8|B7Z300|Q86X72	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L45	ENST00000354308.3	37	c.135	CCDS12919.1	19																																																																																			SYT5	-	NULL		0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	G	NM_003180		55690439	-1	no_errors	ENST00000590851	ensembl	human	novel	70_37	silent	SNP	0.003	C
SYTL4	94121	genome.wustl.edu	37	X	99955937	99955937	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:99955937G>A	ENST00000372989.1	-	7	826	c.495C>T	c.(493-495)atC>atT	p.I165I	SYTL4_ENST00000454200.2_Silent_p.I165I|SYTL4_ENST00000263033.5_Silent_p.I165I|SYTL4_ENST00000455616.1_Silent_p.I165I|SYTL4_ENST00000276141.6_Silent_p.I165I|SYTL4_ENST00000372981.1_Silent_p.I165I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	165					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCCTGGCCAGATGTCACCCA	0.423																																																	0													147.0	131.0	136.0					X																	99955937		2203	4300	6503	SO:0001819	synonymous_variant	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.495C>T	X.37:g.99955937G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.I165	ENST00000372989.1	37	c.495	CCDS14472.1	X																																																																																			SYTL4	-	NULL		0.423	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	G	NM_080737		99955937	-1	no_errors	ENST00000454200	ensembl	human	known	70_37	silent	SNP	0.826	A
TACR2	6865	genome.wustl.edu	37	10	71168822	71168822	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:71168822G>A	ENST00000373306.4	-	3	1140	c.597C>T	c.(595-597)ctC>ctT	p.L199L	TACR2_ENST00000373307.1_5'UTR	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	199					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.L199L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGATCACCACGAGGTGGTACC	0.687																																																	1	Substitution - coding silent(1)	lung(1)											39.0	36.0	37.0					10																	71168822		2203	4299	6502	SO:0001819	synonymous_variant	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.597C>T	10.37:g.71168822G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L199	ENST00000373306.4	37	c.597	CCDS7293.1	10																																																																																			TACR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn		0.687	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	G			71168822	-1	no_errors	ENST00000373306	ensembl	human	known	70_37	silent	SNP	0.006	A
TACC2	10579	genome.wustl.edu	37	10	123969978	123969978	+	Missense_Mutation	SNP	T	T	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:123969978T>C	ENST00000369005.1	+	9	6378	c.6038T>C	c.(6037-6039)tTc>tCc	p.F2013S	TACC2_ENST00000515273.1_Missense_Mutation_p.F2017S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.F2017S|TACC2_ENST00000358010.1_Missense_Mutation_p.F159S|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.F2013S|TACC2_ENST00000360561.3_Missense_Mutation_p.F91S|TACC2_ENST00000369004.3_Missense_Mutation_p.F91S|TACC2_ENST00000368999.1_Missense_Mutation_p.F91S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.F91S|TACC2_ENST00000513429.1_Missense_Mutation_p.F159S|TACC2_ENST00000515603.1_Missense_Mutation_p.F1968S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2013	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAAGTCCCTTCCGTCCCCCG	0.542																																																	0													142.0	115.0	124.0					10																	123969978		2203	4300	6503	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6038T>C	10.37:g.123969978T>C	ENSP00000358001:p.Phe2013Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.F2013S	ENST00000369005.1	37	c.6038	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799233	0.50208	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.08282	3.96;3.59;4.04;4.02;3.96;3.59;4.04;3.46;3.51;3.5;3.51;3.11	5.64	4.49	0.54785	.	0.000000	0.38605	N	0.001640	T	0.20007	0.0481	M	0.65975	2.015	0.37708	D	0.924486	P;D;P;D;D;P;P;P;D	0.59767	0.818;0.972;0.594;0.986;0.972;0.9;0.9;0.9;0.973	B;P;B;P;P;P;P;P;P	0.58780	0.407;0.738;0.231;0.845;0.738;0.576;0.576;0.576;0.845	T	0.10965	-1.0607	10	0.20519	T	0.43	-4.9327	12.9212	0.58232	0.0:0.0:0.1356:0.8644	.	108;2017;91;1968;2017;91;91;159;2013	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	S	2013;159;2017;1968;2013;159;2017;2003;91;91;91;91;108	ENSP00000358001:F2013S;ENSP00000425062:F159S;ENSP00000424467:F2017S;ENSP00000427618:F1968S;ENSP00000334280:F2013S;ENSP00000350701:F159S;ENSP00000395048:F2017S;ENSP00000353763:F91S;ENSP00000357995:F91S;ENSP00000422815:F91S;ENSP00000260733:F91S;ENSP00000420967:F108S	ENSP00000260733:F91S	F	+	2	0	TACC2	123959968	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	3.217000	0.51184	0.948000	0.37687	0.533000	0.62120	TTC	TACC2	-	NULL		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	T			123969978	+1	no_errors	ENST00000334433	ensembl	human	known	70_37	missense	SNP	1.000	C
TADA3	10474	genome.wustl.edu	37	3	9825714	9825714	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:9825714C>T	ENST00000301964.2	-	8	1662	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TADA3_ENST00000343450.2_Silent_p.L368L|TADA3_ENST00000440161.1_Silent_p.L368L	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	368					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						ACGCTCACCTCAGCAGGTCGT	0.587																																																	0													68.0	50.0	56.0					3																	9825714		2203	4300	6503	SO:0001819	synonymous_variant	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1104G>A	3.37:g.9825714C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI83|Q9UFS2	Silent	SNP	pfam_Histone_AcTrfase_su3	p.L368	ENST00000301964.2	37	c.1104	CCDS2583.1	3																																																																																			TADA3	-	pfam_Histone_AcTrfase_su3		0.587	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	C			9825714	-1	no_errors	ENST00000301964	ensembl	human	known	70_37	silent	SNP	1.000	T
TAF5	6877	genome.wustl.edu	37	10	105139503	105139503	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:105139503G>T	ENST00000369839.3	+	4	1275	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	TAF5_ENST00000351396.4_Missense_Mutation_p.D418Y	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	418					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAAAAAACAAGATCCCAATGC	0.368																																																	0													73.0	65.0	67.0					10																	105139503		2203	4300	6503	SO:0001583	missense	6877			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1252G>T	10.37:g.105139503G>T	ENSP00000358854:p.Asp418Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D418Y	ENST00000369839.3	37	c.1252	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608777	0.87258	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60672	0.46;0.17	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79408	-0.1816	10	0.87932	D	0	-17.1101	19.6899	0.95996	0.0:0.0:1.0:0.0	.	418;418	Q15542-2;Q15542	.;TAF5_HUMAN	Y	418	ENSP00000358854:D418Y;ENSP00000311024:D418Y	ENSP00000311024:D418Y	D	+	1	0	TAF5	105129493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.645000	0.89757	0.655000	0.94253	GAT	TAF5	-	NULL		0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	G			105139503	+1	no_errors	ENST00000369839	ensembl	human	known	70_37	missense	SNP	1.000	T
TAP1	6890	genome.wustl.edu	37	6	32816891	32816891	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:32816891G>C	ENST00000354258.4	-	6	1594	c.1433C>G	c.(1432-1434)tCa>tGa	p.S478*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.S217*|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	478	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CAGCATACCTGAAATCTATAA	0.468																																																	0													36.0	26.0	30.0					6																	32816891		1510	2709	4219	SO:0001587	stop_gained	6890				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1433C>G	6.37:g.32816891G>C	ENSP00000346206:p.Ser478*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16149|Q96CP4	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.S478*	ENST00000354258.4	37	c.1433	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.225603	0.98146	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	4.78	3.82	0.43975	.	0.221852	0.23202	N	0.050778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.1246	9.7796	0.40640	0.1101:0.0:0.8899:0.0	.	.	.	.	X	478;217	.	ENSP00000346206:S478X	S	-	2	0	TAP1	32924869	1.000000	0.71417	0.995000	0.50966	0.767000	0.43475	4.009000	0.57110	2.481000	0.83766	0.579000	0.79373	TCA	TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2		0.468	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	G	NM_000593		32816891	-1	no_errors	ENST00000354258	ensembl	human	known	70_37	nonsense	SNP	0.994	C
TARSL2	123283	genome.wustl.edu	37	15	102197143	102197143	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:102197143G>C	ENST00000335968.3	-	18	2458	c.2242C>G	c.(2242-2244)Cag>Gag	p.Q748E	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	748					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATTATACTGAGCCAGCTGT	0.313																																																	0													75.0	70.0	71.0					15																	102197143		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2242C>G	15.37:g.102197143G>C	ENSP00000338093:p.Gln748Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.Q748E	ENST00000335968.3	37	c.2242	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312038	0.81358	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	D;D	0.82344	-1.6;-1.6	5.41	5.41	0.78517	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.94291	0.8166	H	0.97365	3.99	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.96100	0.9068	10	0.87932	D	0	-23.6636	16.6795	0.85288	0.0:0.0:1.0:0.0	.	748	A2RTX5	SYTC2_HUMAN	E	748;653;748	ENSP00000338093:Q748E;ENSP00000439899:Q748E	ENSP00000329291:Q653E	Q	-	1	0	TARSL2	100014666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.518000	0.98022	2.548000	0.85928	0.491000	0.48974	CAG	TARSL2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.313	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	G	NM_152334		102197143	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	C
TBC1D10B	26000	genome.wustl.edu	37	16	30369268	30369268	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:30369268G>C	ENST00000409939.3	-	9	2504	c.2424C>G	c.(2422-2424)ttC>ttG	p.F808L	CD2BP2_ENST00000305596.3_5'Flank|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	808					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCAGAGGTCAGAAGTAAGCGT	0.662																																																	0													31.0	29.0	30.0					16																	30369268		1706	3043	4749	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.2424C>G	16.37:g.30369268G>C	ENSP00000386538:p.Phe808Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F808L	ENST00000409939.3	37	c.2424	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538724	0.45176	.	.	ENSG00000169221	ENST00000409939	T	0.11169	2.8	5.05	4.09	0.47781	.	0.347197	0.22883	N	0.054497	T	0.12475	0.0303	N	0.08118	0	0.29809	N	0.83178	D	0.63880	0.993	D	0.68192	0.956	T	0.03555	-1.1025	10	0.87932	D	0	.	6.7832	0.23659	0.2839:0.0:0.7161:0.0	.	808	Q4KMP7	TB10B_HUMAN	L	808	ENSP00000386538:F808L	ENSP00000386538:F808L	F	-	3	2	TBC1D10B	30276769	0.986000	0.35501	1.000000	0.80357	0.973000	0.67179	0.938000	0.28965	1.241000	0.43820	0.467000	0.42956	TTC	TBC1D10B	-	NULL		0.662	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	G	NM_015527		30369268	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	1.000	C
TCF25	22980	genome.wustl.edu	37	16	89951063	89951063	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89951063C>T	ENST00000263346.8	+	3	484	c.428C>T	c.(427-429)tCg>tTg	p.S143L	TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	143					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGAGAAGCATCGGTACGTGAG	0.527																																																	0													111.0	80.0	90.0					16																	89951063		2198	4299	6497	SO:0001630	splice_region_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.429+1C>T	16.37:g.89951063C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.S143L	ENST00000263346.8	37	c.428	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559015	0.27827	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	5.14	-3.23	0.05109	.	0.914251	0.09247	N	0.828408	T	0.41351	0.1155	L	0.39147	1.195	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17653	-1.0362	9	0.26408	T	0.33	.	6.7079	0.23260	0.0:0.2711:0.141:0.5879	.	143	Q9BQ70	TCF25_HUMAN	L	143	.	ENSP00000263346:S143L	S	+	2	0	TCF25	88478564	0.001000	0.12720	0.031000	0.17742	0.031000	0.12232	-0.733000	0.04898	-0.409000	0.07553	-0.137000	0.14449	TCG	TCF25	-	NULL		0.527	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972	Missense_Mutation	89951063	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	missense	SNP	0.010	T
TCTE1	202500	genome.wustl.edu	37	6	44255656	44255656	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:44255656C>T	ENST00000371505.4	-	2	30		c.e2-1		TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_Splice_Site|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTAGGGATCTGGAGCAAAA	0.532																																																	0																																										SO:0001630	splice_region_variant	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.93-1G>A	6.37:g.44255656C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX59|Q8IYS6	Splice_Site	SNP	-	e1-1	ENST00000371505.4	37	c.1-1	CCDS4910.1	6																																																																																			TCTE1	-	-		0.532	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	C	NM_182539	Intron	44255656	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	splice_site	SNP	0.416	T
TCTEX1D2	255758	genome.wustl.edu	37	3	196044975	196044975	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:196044975C>T	ENST00000325318.5	-	1	184	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.E17K|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Intron	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	17										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTCAGCCTCAGGCACCCCG	0.662																																																	0													42.0	40.0	40.0					3																	196044975		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.49G>A	3.37:g.196044975C>T	ENSP00000324323:p.Glu17Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.E17K	ENST00000325318.5	37	c.49	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858032	0.71834	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.24538	1.85	4.84	4.84	0.62591	.	1.253610	0.06809	U	0.789988	T	0.21267	0.0512	L	0.29908	0.895	0.80722	D	1	B	0.30482	0.281	B	0.27608	0.081	T	0.03148	-1.1067	10	0.16420	T	0.52	-10.8398	13.2904	0.60269	0.0:1.0:0.0:0.0	.	17	Q8WW35	TC1D2_HUMAN	K	17	ENSP00000324323:E17K	ENSP00000324323:E17K	E	-	1	0	TCTEX1D2	197529372	0.189000	0.23263	0.019000	0.16419	0.008000	0.06430	3.497000	0.53295	2.495000	0.84180	0.561000	0.74099	GAG	TCTEX1D2	-	NULL		0.662	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	C	NM_152773		196044975	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.043	T
TENM2	57451	genome.wustl.edu	37	5	167687383	167687383	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:167687383G>A	ENST00000518659.1	+	28	7567	c.7528G>A	c.(7528-7530)Gaa>Aaa	p.E2510K	TENM2_ENST00000403607.2_Missense_Mutation_p.E2334K|TENM2_ENST00000545108.1_Missense_Mutation_p.E2509K|TENM2_ENST00000520394.1_Missense_Mutation_p.E2271K|TENM2_ENST00000519204.1_Missense_Mutation_p.E2389K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2510					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCCTCCCTATGAATTGTCAGA	0.443																																																	0													122.0	113.0	116.0					5																	167687383		1976	4163	6139	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7528G>A	5.37:g.167687383G>A	ENSP00000429430:p.Glu2510Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2510K	ENST00000518659.1	37	c.7528		5	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746507	0.89663	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.08;-2.2;-2.53;-2.56	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.974	D;D;D	0.91635	0.999;0.998;0.969	D	0.93432	0.6786	10	0.30078	T	0.28	.	18.5769	0.91158	0.0:0.0:1.0:0.0	.	2509;2510;2271	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	2510;2509;2389;2271;2334	ENSP00000429430:E2510K;ENSP00000438635:E2509K;ENSP00000428964:E2389K;ENSP00000427874:E2271K;ENSP00000384905:E2334K	ENSP00000384905:E2334K	E	+	1	0	ODZ2	167619961	1.000000	0.71417	0.995000	0.50966	0.754000	0.42855	9.793000	0.99091	2.386000	0.81285	0.563000	0.77884	GAA	TENM2	-	NULL		0.443	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167687383	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	A
TERF1	7013	genome.wustl.edu	37	8	73939209	73939210	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:73939209_73939210GA>AT	ENST00000276603.5	+	6	832_833	c.809_810GA>AT	c.(808-810)aGA>aAT	p.R270N	TERF1_ENST00000276602.6_Missense_Mutation_p.R270N	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	270	Interaction with RLIM.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAAAGGACAAGAACAATAACTT	0.337																																																	0																																										SO:0001583	missense	7013			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	Exception_encountered	8.37:g.73939209_73939210delinsAT	ENSP00000276603:p.Arg270Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.R270K|p.R270S	ENST00000276603.5	37	c.809|c.810	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2		0.337	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	G|A	NM_017489		73939209|73939210	+1	no_errors	ENST00000276603	ensembl	human	known	70_37	missense	SNP	0.143|0.111	A|T
TEX36	387718	genome.wustl.edu	37	10	127344501	127344501	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:127344501C>T	ENST00000368821.3	-	4	683	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_001128202.1	NP_001121674.1	Q5VZQ5	TEX36_HUMAN	testis expressed 36	177																	ACCTTTTTGTCAACAGTGAAC	0.358																																																	0													201.0	163.0	175.0					10																	127344501		692	1591	2283	SO:0001583	missense	387718				CCDS44493.1	10q26.13	2012-08-13	2012-08-13	2012-08-13	ENSG00000175018	ENSG00000175018			31653	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 122"""	C10orf122			Standard	NM_001128202		Approved	bA383C5.1	uc001lik.4	Q5VZQ5	OTTHUMG00000019229	ENST00000368821.3:c.529G>A	10.37:g.127344501C>T	ENSP00000357811:p.Asp177Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5T8	Missense_Mutation	SNP	NULL	p.D177N	ENST00000368821.3	37	c.529	CCDS44493.1	10	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023539	0.19433	.	.	ENSG00000175018	ENST00000368821	T	0.45276	0.9	3.94	0.937	0.19494	.	0.510102	0.18258	N	0.146734	T	0.19406	0.0466	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.22906	-1.0203	10	0.07175	T	0.84	-4.8045	3.5307	0.07775	0.0:0.492:0.2455:0.2625	.	177	Q5VZQ5	CJ122_HUMAN	N	177	ENSP00000357811:D177N	ENSP00000357811:D177N	D	-	1	0	C10orf122	127334491	0.317000	0.24589	0.009000	0.14445	0.013000	0.08279	0.516000	0.22817	0.213000	0.20722	0.561000	0.74099	GAC	TEX36	-	NULL		0.358	TEX36-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX36	HGNC	protein_coding	OTTHUMT00000050915.1	C	NM_001128202		127344501	-1	no_errors	ENST00000368821	ensembl	human	known	70_37	missense	SNP	0.009	T
TFF2	7032	genome.wustl.edu	37	21	43766557	43766557	+	3'UTR	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:43766557G>C	ENST00000291526.4	-	0	645				TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2						calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						AGGATTTCATGAAGTATGAAG	0.368																																																	0													45.0	44.0	44.0					21																	43766557		692	1591	2283	SO:0001624	3_prime_UTR_variant	7032				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.*85C>G	21.37:g.43766557G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15854	RNA	SNP	-	NULL	ENST00000291526.4	37	NULL	CCDS13684.1	21																																																																																			TFF2	-	-		0.368	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF2	HGNC	protein_coding	OTTHUMT00000195355.1	G	NM_005423		43766557	-1	no_errors	ENST00000463771	ensembl	human	known	70_37	rna	SNP	0.008	C
TGM3	7053	genome.wustl.edu	37	20	2315878	2315878	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:2315878G>A	ENST00000381458.5	+	11	1822	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	587					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGTGGTGGTGGAGCGGGACAT	0.582																																																	0													164.0	130.0	142.0					20																	2315878		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1759G>A	20.37:g.2315878G>A	ENSP00000370867:p.Glu587Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E587K	ENST00000381458.5	37	c.1759	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218706	0.39201	.	.	ENSG00000125780	ENST00000381458	T	0.65732	-0.17	5.13	5.13	0.70059	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.609668	0.17747	N	0.163350	T	0.56834	0.2012	M	0.66939	2.045	0.41473	D	0.988115	B	0.20261	0.043	B	0.10450	0.005	T	0.52646	-0.8548	10	0.22109	T	0.4	-1.0593	9.664	0.39972	0.0952:0.0:0.9048:0.0	.	587	Q08188	TGM3_HUMAN	K	587	ENSP00000370867:E587K	ENSP00000370867:E587K	E	+	1	0	TGM3	2263878	0.977000	0.34250	0.912000	0.35992	0.816000	0.46133	2.235000	0.43044	2.363000	0.80096	0.561000	0.74099	GAG	TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.582	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315878	+1	no_errors	ENST00000381458	ensembl	human	known	70_37	missense	SNP	0.976	A
THAP7	80764	genome.wustl.edu	37	22	21354707	21354707	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:21354707C>T	ENST00000215742.4	-	4	566	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R131Q|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	131					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGGCCCTCGGCCCTCGGA	0.622																																																	0													8.0	11.0	10.0					22																	21354707		2073	4064	6137	SO:0001583	missense	80764			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.392G>A	22.37:g.21354707C>T	ENSP00000215742:p.Arg131Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD97|D3DX40	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R131Q	ENST00000215742.4	37	c.392	CCDS13787.1	22	.	.	.	.	.	.	.	.	.	.	C	9.518	1.107543	0.20714	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96073	-3.9;-3.9	4.24	0.645	0.17782	.	1.831780	0.02984	N	0.145994	D	0.86075	0.5846	N	0.03608	-0.345	0.22112	N	0.999353	B	0.02656	0.0	B	0.01281	0.0	T	0.80331	-0.1427	10	0.11485	T	0.65	-19.9049	4.7219	0.12922	0.1734:0.6114:0.0:0.2152	.	131	Q9BT49	THAP7_HUMAN	Q	131	ENSP00000215742:R131Q;ENSP00000382084:R131Q	ENSP00000215742:R131Q	R	-	2	0	THAP7	19684707	0.000000	0.05858	0.987000	0.45799	0.735000	0.41995	-0.444000	0.06854	0.498000	0.27948	0.491000	0.48974	CGA	THAP7	-	NULL		0.622	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21354707	-1	no_errors	ENST00000215742	ensembl	human	known	70_37	missense	SNP	0.827	T
THSD7B	80731	genome.wustl.edu	37	2	138414429	138414429	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:138414429G>A	ENST00000409968.1	+	23	4347	c.4169G>A	c.(4168-4170)aGa>aAa	p.R1390K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1362K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1393K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1392	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTGATGGAAGAAGCTTTGAG	0.468																																																	0													68.0	70.0	69.0					2																	138414429		1930	4120	6050	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4169G>A	2.37:g.138414429G>A	ENSP00000387145:p.Arg1390Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1393K	ENST00000409968.1	37	c.4178		2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847938	0.91277	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21932	2.5;2.39;1.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.04781	-1.0927	10	0.09084	T	0.74	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1362	C9JKN6	.	K	1390;1393;1362	ENSP00000387145:R1390K;ENSP00000272643:R1393K;ENSP00000413841:R1362K	ENSP00000272643:R1393K	R	+	2	0	THSD7B	138130899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.573000	0.82421	2.941000	0.99782	0.655000	0.94253	AGA	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138414429	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	A
TIE1	7075	genome.wustl.edu	37	1	43782884	43782884	+	Silent	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43782884C>A	ENST00000372476.3	+	15	2503	c.2424C>A	c.(2422-2424)atC>atA	p.I808I	TIE1_ENST00000433781.2_Silent_p.I453I|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	808					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGAGACCATCCTGCAGTTCA	0.602																																																	0													65.0	62.0	63.0					1																	43782884		2203	4300	6503	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2424C>A	1.37:g.43782884C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I808	ENST00000372476.3	37	c.2424	CCDS482.1	1																																																																																			TIE1	-	NULL		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43782884	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	silent	SNP	0.999	A
TIE1	7075	genome.wustl.edu	37	1	43783067	43783067	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43783067C>T	ENST00000372476.3	+	15	2686	c.2607C>T	c.(2605-2607)atC>atT	p.I869I	TIE1_ENST00000433781.2_Silent_p.I514I|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGCAGCCATCAAAATGCTGA	0.592																																																	0													63.0	62.0	62.0					1																	43783067		2203	4300	6503	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2607C>T	1.37:g.43783067C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I869	ENST00000372476.3	37	c.2607	CCDS482.1	1																																																																																			TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.592	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783067	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	silent	SNP	1.000	T
TIE1	7075	genome.wustl.edu	37	1	43783157	43783157	+	Intron	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43783157C>G	ENST00000372476.3	+	15	2699				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGCTTCCTCCAGCAATTGA	0.522																																																	0																																										SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2620+77C>G	1.37:g.43783157C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.522	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783157	+1	no_errors	ENST00000473014	ensembl	human	known	70_37	rna	SNP	0.001	G
TIE1	7075	genome.wustl.edu	37	1	43783244	43783244	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:43783244C>G	ENST00000372476.3	+	16	2709	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	TIE1_ENST00000433781.2_Missense_Mutation_p.S522C|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGTATGCCTCTGAAAATGAC	0.493																																																	0													155.0	170.0	165.0					1																	43783244		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2630C>G	1.37:g.43783244C>G	ENSP00000361554:p.Ser877Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S877C	ENST00000372476.3	37	c.2630	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162717	0.78226	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.83673	-1.75;-1.75	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39834	N	0.001250	D	0.91676	0.7369	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.973;0.946;0.973	D	0.92920	0.6354	10	0.87932	D	0	.	18.5685	0.91126	0.0:1.0:0.0:0.0	.	832;522;877	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	C	877;280;160;522	ENSP00000361554:S877C;ENSP00000411728:S522C	ENSP00000361553:S280C	S	+	2	0	TIE1	43555831	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.384000	0.81235	0.655000	0.94253	TCT	TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.493	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	C	NM_005424		43783244	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	G
TIGD6	81789	genome.wustl.edu	37	5	149375086	149375086	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:149375086C>T	ENST00000296736.3	-	2	1600	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	TIGD6_ENST00000515406.2_Missense_Mutation_p.E276K	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	276	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATCCGGCGTTCCGCCCTCTTC	0.517																																																	0													89.0	80.0	83.0					5																	149375086		2203	4300	6503	SO:0001583	missense	81789			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.826G>A	5.37:g.149375086C>T	ENSP00000296736:p.Glu276Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E276K	ENST00000296736.3	37	c.826	CCDS4301.1	5	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.522193	0.00967	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.39997	1.05;1.05	5.14	4.21	0.49690	.	0.000000	0.34676	U	0.003771	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	P	0.47484	0.896	P	0.44394	0.448	T	0.34850	-0.9812	10	0.02654	T	1	.	6.0645	0.19856	0.1884:0.7163:0.0:0.0953	.	276	Q17RP2	TIGD6_HUMAN	K	276	ENSP00000296736:E276K;ENSP00000425318:E276K	ENSP00000296736:E276K	E	-	1	0	TIGD6	149355279	0.033000	0.19621	0.181000	0.23098	0.319000	0.28217	0.651000	0.24873	2.544000	0.85801	0.563000	0.77884	GAA	TIGD6	-	pfam_DDE_SF_endonuclease_CENPB-like		0.517	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	C	NM_030953		149375086	-1	no_errors	ENST00000296736	ensembl	human	known	70_37	missense	SNP	0.059	T
TJP1	7082	genome.wustl.edu	37	15	30112749	30112749	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:30112749G>A	ENST00000346128.6	-	1	502				TJP1_ENST00000356107.6_Intron|RP11-680F8.3_ENST00000557989.1_RNA|TJP1_ENST00000400011.2_Missense_Mutation_p.S7L|TJP1_ENST00000495972.2_Intron|TJP1_ENST00000545208.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1						apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAATCCATTGAAAACGTATT	0.348																																					Melanoma(77;681 1843 6309 6570)												0																																										SO:0001627	intron_variant	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.27+1455C>T	15.37:g.30112749G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.S7L	ENST00000346128.6	37	c.20	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109324	0.20714	.	.	ENSG00000104067	ENST00000400011	T	0.05513	3.43	3.34	-1.29	0.09288	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	7	.	.	.	.	0.5127	0.00598	0.2648:0.1884:0.3543:0.1925	.	7	G5E9E7	.	L	7	ENSP00000382890:S7L	.	S	-	2	0	TJP1	27900041	0.147000	0.22687	0.000000	0.03702	0.000000	0.00434	0.175000	0.16762	-0.240000	0.09696	-0.912000	0.02778	TCA	TJP1	-	superfamily_PDZ		0.348	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	G	NM_003257		30112749	-1	no_errors	ENST00000400011	ensembl	human	novel	70_37	missense	SNP	0.000	A
TLE4	7091	genome.wustl.edu	37	9	82286177	82286177	+	Intron	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:82286177C>T	ENST00000376552.2	+	8	1627				TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376520.4_Intron	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGGAAGAACCTTCTGGGTTC	0.398																																																	0																																										SO:0001627	intron_variant	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.609+17187C>T	9.37:g.82286177C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N	p.T221	ENST00000376552.2	37	c.663	CCDS43837.1	9																																																																																			TLE4	-	NULL		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	C	XM_212237		82286177	+1	no_errors	ENST00000462803	ensembl	human	known	70_37	silent	SNP	0.801	T
TLK2	11011	genome.wustl.edu	37	17	60642387	60642387	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:60642387G>C	ENST00000326270.9	+	11	1125	c.857G>C	c.(856-858)aGa>aCa	p.R286T	TLK2_ENST00000343388.7_Missense_Mutation_p.R254T|TLK2_ENST00000542523.1_Missense_Mutation_p.R254T|TLK2_ENST00000582809.1_Missense_Mutation_p.R137T|TLK2_ENST00000346027.5_Missense_Mutation_p.R286T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	286					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATGGCGTGTAGAGATAAGAGC	0.413																																																	0													108.0	91.0	97.0					17																	60642387		2203	4300	6503	SO:0001583	missense	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.857G>C	17.37:g.60642387G>C	ENSP00000316512:p.Arg286Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R286T	ENST00000326270.9	37	c.857		17	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906070	0.52333	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.75154	-0.82;-0.91;-0.81;-0.91	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.997;0.991;0.991;0.992	D	0.90092	0.4178	10	0.87932	D	0	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	286;254;286;286	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	T	286;254;286;254	ENSP00000275780:R286T;ENSP00000340800:R254T;ENSP00000316512:R286T;ENSP00000442311:R254T	ENSP00000316512:R286T	R	+	2	0	TLK2	57996119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGA	TLK2	-	NULL		0.413	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60642387	+1	no_errors	ENST00000326270	ensembl	human	known	70_37	missense	SNP	1.000	C
TMC4	147798	genome.wustl.edu	37	19	54664211	54664211	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54664211C>T	ENST00000376591.4	-	14	2194	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K	TMC4_ENST00000301187.4_Missense_Mutation_p.R682K|TMC4_ENST00000416963.1_Missense_Mutation_p.R270K|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	688					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCGTCTGTCTCtgacgttt	0.597																																																	0													58.0	61.0	60.0					19																	54664211		2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2063G>A	19.37:g.54664211C>T	ENSP00000365776:p.Arg688Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.R682K	ENST00000376591.4	37	c.2045	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739005	0.49045	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.71934	-0.6;-0.61;-0.6	4.52	2.38	0.29361	.	0.471110	0.23510	N	0.047419	T	0.51975	0.1706	N	0.08118	0	0.09310	N	1	B;B;B	0.29646	0.109;0.253;0.036	B;B;B	0.36464	0.043;0.225;0.097	T	0.51284	-0.8725	10	0.87932	D	0	-0.5998	8.8864	0.35406	0.6023:0.3977:0.0:0.0	.	688;682;270	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	K	682;270;688	ENSP00000301187:R682K;ENSP00000405023:R270K;ENSP00000365776:R688K	ENSP00000301187:R682K	R	-	2	0	TMC4	59356023	0.435000	0.25577	0.431000	0.26735	0.959000	0.62525	2.767000	0.47637	0.352000	0.24053	-0.271000	0.10264	AGA	TMC4	-	NULL		0.597	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54664211	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.106	T
TMC4	147798	genome.wustl.edu	37	19	54664213	54664213	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54664213C>T	ENST00000376591.4	-	14	2192	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	TMC4_ENST00000301187.4_Silent_p.Q681Q|TMC4_ENST00000416963.1_Silent_p.Q269Q|LENG1_ENST00000222224.3_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	687					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGTCTGTCTCtgacgtttga	0.592																																																	0													58.0	61.0	60.0					19																	54664213		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2061G>A	19.37:g.54664213C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.Q681	ENST00000376591.4	37	c.2043	CCDS46174.1	19																																																																																			TMC4	-	NULL		0.592	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54664213	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	0.194	T
TMC4	147798	genome.wustl.edu	37	19	54672253	54672253	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:54672253G>A	ENST00000376591.4	-	4	745	c.614C>T	c.(613-615)tCg>tTg	p.S205L	TMC4_ENST00000301187.4_Missense_Mutation_p.S199L|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	205					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCGCAGGGCGAGGAGATGTC	0.662											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20.0	17.0	18.0					19																	54672253		2167	4257	6424	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.614C>T	19.37:g.54672253G>A	ENSP00000365776:p.Ser205Leu	Somatic	1002	WXS	Illumina HiSeq	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.S199L	ENST00000376591.4	37	c.596	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525631	0.27299	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.39406	1.08;1.08;1.08	3.14	3.14	0.36123	.	1.450360	0.04399	N	0.363858	T	0.30448	0.0765	L	0.42686	1.345	0.80722	D	1	P;B	0.42296	0.775;0.172	B;B	0.24394	0.053;0.041	T	0.43032	-0.9416	10	0.24483	T	0.36	-13.4842	10.1101	0.42557	0.0:0.0:1.0:0.0	.	205;199	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	L	199;205;109	ENSP00000301187:S199L;ENSP00000365776:S205L;ENSP00000416444:S109L	ENSP00000301187:S199L	S	-	2	0	TMC4	59364065	0.005000	0.15991	0.413000	0.26509	0.394000	0.30568	1.277000	0.33167	2.071000	0.62044	0.558000	0.71614	TCG	TMC4	-	NULL		0.662	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54672253	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.718	A
TMC7	79905	genome.wustl.edu	37	16	19056753	19056753	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:19056753C>T	ENST00000304381.5	+	11	1676	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	TMC7_ENST00000421369.3_Missense_Mutation_p.P406S|TMC7_ENST00000569532.1_Missense_Mutation_p.P516S	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	516					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGTGGATTTTCCTAGAAAGTA	0.493																																																	0													127.0	105.0	113.0					16																	19056753		2197	4300	6497	SO:0001583	missense	79905			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1546C>T	16.37:g.19056753C>T	ENSP00000304710:p.Pro516Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.P516S	ENST00000304381.5	37	c.1546	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620958	0.87460	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.63417	-0.04;-0.04	5.27	5.27	0.74061	.	0.122950	0.56097	D	0.000026	T	0.80292	0.4596	M	0.82056	2.57	0.80722	D	1	D;P	0.67145	0.996;0.942	D;P	0.67900	0.954;0.881	T	0.82651	-0.0352	10	0.62326	D	0.03	.	18.8879	0.92387	0.0:1.0:0.0:0.0	.	516;516	Q7Z402;B3KSZ3	TMC7_HUMAN;.	S	516;406	ENSP00000304710:P516S;ENSP00000397081:P406S	ENSP00000304710:P516S	P	+	1	0	TMC7	18964254	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.728000	0.84847	2.437000	0.82529	0.555000	0.69702	CCT	TMC7	-	pfam_TMC		0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	C	NM_024847		19056753	+1	no_errors	ENST00000304381	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM115	11070	genome.wustl.edu	37	3	50396484	50396484	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:50396484G>A	ENST00000266025.3	-	1	557	c.11C>T	c.(10-12)gCc>gTc	p.A4V	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	4					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTGGCAGGGCACGTTGCAT	0.687																																																	0													10.0	9.0	9.0					3																	50396484		2102	4147	6249	SO:0001583	missense	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.11C>T	3.37:g.50396484G>A	ENSP00000266025:p.Ala4Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.A4V	ENST00000266025.3	37	c.11	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695205	0.48202	.	.	ENSG00000126062	ENST00000266025	.	.	.	4.95	4.95	0.65309	.	0.195815	0.44902	D	0.000410	T	0.32823	0.0842	N	0.22421	0.69	0.32365	N	0.556679	B	0.25105	0.118	B	0.17098	0.017	T	0.34601	-0.9822	9	0.29301	T	0.29	-1.4517	13.4811	0.61336	0.0:0.0:0.8426:0.1574	.	4	Q12893	TM115_HUMAN	V	4	.	ENSP00000266025:A4V	A	-	2	0	TMEM115	50371488	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.370000	0.52372	2.679000	0.91253	0.655000	0.94253	GCC	TMEM115	-	NULL		0.687	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	G	NM_007024		50396484	-1	no_errors	ENST00000266025	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM130	222865	genome.wustl.edu	37	7	98460788	98460788	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:98460788G>A	ENST00000416379.2	-	2	325	c.321C>T	c.(319-321)gtC>gtT	p.V107V	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000450876.1_Silent_p.V23V|TMEM130_ENST00000339375.4_Silent_p.V107V|TMEM130_ENST00000546258.1_Silent_p.V88V			Q8N3G9	TM130_HUMAN	transmembrane protein 130	107						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.V107V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGACCCAGACAGAGACCG	0.627																																																	1	Substitution - coding silent(1)	large_intestine(1)											61.0	61.0	61.0					7																	98460788		2203	4300	6503	SO:0001819	synonymous_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.321C>T	7.37:g.98460788G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	superfamily_PKD_dom,pfscan_PKD_dom	p.V107	ENST00000416379.2	37	c.321	CCDS47650.1	7																																																																																			TMEM130	-	NULL		0.627	TMEM130-008	KNOWN	basic|CCDS	protein_coding	TMEM130	HGNC	protein_coding	OTTHUMT00000380713.1	G	NM_152913		98460788	-1	no_errors	ENST00000416379	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM168	64418	genome.wustl.edu	37	7	112407779	112407779	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:112407779C>T	ENST00000312814.6	-	5	2127	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	TMEM168_ENST00000454074.1_Missense_Mutation_p.D523N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	523						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAAGTGTGTCAAGGCGTAGT	0.388																																																	0													50.0	49.0	49.0					7																	112407779		2200	4281	6481	SO:0001583	missense	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1567G>A	7.37:g.112407779C>T	ENSP00000323068:p.Asp523Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.D523N	ENST00000312814.6	37	c.1567	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921762	0.73213	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.8	5.8	0.92144	.	0.188509	0.53938	D	0.000042	T	0.60932	0.2307	L	0.48642	1.525	0.58432	D	0.999999	B	0.30281	0.275	B	0.30855	0.121	T	0.61113	-0.7128	9	0.72032	D	0.01	-21.6671	20.0589	0.97667	0.0:1.0:0.0:0.0	.	523	Q9H0V1	TM168_HUMAN	N	523;523;139;84	.	ENSP00000323068:D523N	D	-	1	0	TMEM168	112195015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.668000	0.61568	2.732000	0.93576	0.650000	0.86243	GAC	TMEM168	-	NULL		0.388	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	C	NM_022484		112407779	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM183A	92703	genome.wustl.edu	37	1	202985216	202985216	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:202985216C>T	ENST00000367242.3	+	5	736	c.656C>T	c.(655-657)tCc>tTc	p.S219F	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	219						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GCTCGAATCTCCAAGAATCCA	0.468																																																	0													109.0	110.0	110.0					1																	202985216		2203	4297	6500	SO:0001583	missense	92703			BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.656C>T	1.37:g.202985216C>T	ENSP00000356211:p.Ser219Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.S219F	ENST00000367242.3	37	c.656	CCDS1432.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.301056	0.95601	.	.	ENSG00000163444	ENST00000367242	T	0.24538	1.85	5.4	5.4	0.78164	.	0.105510	0.64402	D	0.000002	T	0.48768	0.1518	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.986;0.999;0.986;0.986	P;D;P;P	0.67548	0.814;0.952;0.742;0.814	T	0.44967	-0.9293	10	0.72032	D	0.01	-15.8787	19.1413	0.93446	0.0:1.0:0.0:0.0	.	219;219;219;219	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	F	219	ENSP00000356211:S219F	ENSP00000356211:S219F	S	+	2	0	TMEM183A	201251839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.679000	0.91253	0.655000	0.94253	TCC	TMEM183A	-	NULL		0.468	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM183A	HGNC	protein_coding	OTTHUMT00000100129.1	C	NM_138391		202985216	+1	no_errors	ENST00000367242	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM194B	100131211	genome.wustl.edu	37	2	191375108	191375108	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:191375108G>C	ENST00000409150.3	-	8	1175	c.1109C>G	c.(1108-1110)tCc>tGc	p.S370C		NM_001142645.1	NP_001136117.1	A6NFY4	T194B_HUMAN	transmembrane protein 194B	370						integral component of membrane (GO:0016021)											GTGGAGTCTGGAGACGACCAG	0.512																																																	0													90.0	91.0	91.0					2																	191375108		692	1591	2283	SO:0001583	missense	100131211				CCDS46476.1	2q32.2	2008-06-10			ENSG00000189362	ENSG00000189362			33700	protein-coding gene	gene with protein product							Standard	NM_001142645		Approved		uc010zgf.2	A6NFY4	OTTHUMG00000154454	ENST00000409150.3:c.1109C>G	2.37:g.191375108G>C	ENSP00000386292:p.Ser370Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYG6	Missense_Mutation	SNP	pfam_TMEM194	p.S370C	ENST00000409150.3	37	c.1109	CCDS46476.1	2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726287	0.48833	.	.	ENSG00000189362	ENST00000409150	T	0.52057	0.68	4.63	4.63	0.57726	Domain of unknown function DUF2215 (1);	.	.	.	.	T	0.70692	0.3253	M	0.85542	2.76	0.41667	D	0.989214	D	0.89917	1.0	D	0.72982	0.979	T	0.76547	-0.2919	9	0.87932	D	0	.	14.69	0.69080	0.0:0.0:1.0:0.0	.	370	A6NFY4	T194B_HUMAN	C	370	ENSP00000386292:S370C	ENSP00000386292:S370C	S	-	2	0	TMEM194B	191083353	1.000000	0.71417	0.785000	0.31869	0.052000	0.14988	3.475000	0.53136	2.567000	0.86603	0.591000	0.81541	TCC	TMEM194B	-	pfam_TMEM194		0.512	TMEM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194B	HGNC	protein_coding	OTTHUMT00000335299.1	G	XM_001723498		191375108	-1	no_errors	ENST00000409150	ensembl	human	known	70_37	missense	SNP	0.992	C
TMEM50B	757	genome.wustl.edu	37	21	34841094	34841094	+	Splice_Site	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:34841094C>T	ENST00000542230.2	-	2	313	c.99G>A	c.(97-99)ttG>ttA	p.L33L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	33						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCTCACTTACCAATATACCTG	0.423																																																	0													148.0	128.0	135.0					21																	34841094		2203	4300	6503	SO:0001630	splice_region_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.99+1G>A	21.37:g.34841094C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	pfam_UPF0220	p.L33	ENST00000542230.2	37	c.99	CCDS13625.1	21																																																																																			TMEM50B	-	pfam_UPF0220		0.423	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50B	HGNC	protein_coding	OTTHUMT00000140080.5	C		Silent	34841094	-1	no_errors	ENST00000420455	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM8B	51754	genome.wustl.edu	37	9	35846020	35846020	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:35846020G>A	ENST00000377991.4	+	8	1343	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377996.1_Missense_Mutation_p.E110K|TMEM8B_ENST00000377988.2_Missense_Mutation_p.E110K|TMEM8B_ENST00000439587.2_Missense_Mutation_p.E110K	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	110					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTTGACTCACGAGGTGCCCTT	0.617																																																	0													105.0	87.0	93.0					9																	35846020		2203	4300	6503	SO:0001583	missense	51754			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.328G>A	9.37:g.35846020G>A	ENSP00000367230:p.Glu110Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	pfam_DUF3522	p.E110K	ENST00000377991.4	37	c.328	CCDS43800.1	9	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570726	0.45798	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.43688	0.94;0.94;0.95;0.95	5.19	5.19	0.71726	.	0.276343	0.35970	N	0.002876	T	0.32882	0.0844	N	0.19112	0.55	0.38240	D	0.941298	B;D	0.63046	0.102;0.992	B;P	0.48063	0.012;0.565	T	0.11108	-1.0601	10	0.06099	T	0.92	-8.5919	17.7363	0.88394	0.0:0.0:1.0:0.0	.	110;474	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	K	110	ENSP00000367235:E110K;ENSP00000395810:E110K;ENSP00000367230:E110K;ENSP00000367227:E110K	ENSP00000367227:E110K	E	+	1	0	TMEM8B	35836020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.572000	0.90756	2.426000	0.82243	0.561000	0.74099	GAG	TMEM8B	-	NULL		0.617	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2	G	NM_016446		35846020	+1	no_errors	ENST00000377988	ensembl	human	known	70_37	missense	SNP	1.000	A
TNFRSF10A	8797	genome.wustl.edu	37	8	23082497	23082497	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:23082497C>T	ENST00000221132.3	-	1	142	c.78G>A	c.(76-78)ggG>ggA	p.G26G	RP11-1149O23.3_ENST00000500853.1_RNA|RP11-1149O23.3_ENST00000517774.1_RNA|RP11-1149O23.4_ENST00000511929.2_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	26					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGCCTCTGTCCCACTCGCTG	0.652																																																	0													13.0	14.0	14.0					8																	23082497		2203	4295	6498	SO:0001819	synonymous_variant	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.78G>A	8.37:g.23082497C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5I4|Q53Y72|Q96E62	Silent	SNP	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.G26	ENST00000221132.3	37	c.78	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10		0.652	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	C	NM_003844		23082497	-1	no_errors	ENST00000221132	ensembl	human	known	70_37	silent	SNP	0.000	T
TNFSF10	8743	genome.wustl.edu	37	3	172229441	172229441	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:172229441C>G	ENST00000241261.2	-	3	401	c.279G>C	c.(277-279)ttG>ttC	p.L93F	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	93					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGTTCTCAAAATCATCT	0.313																																																	0													63.0	66.0	65.0					3																	172229441		2203	4299	6502	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.279G>C	3.37:g.172229441C>G	ENSP00000241261:p.Leu93Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1Y9B3	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF	p.L93F	ENST00000241261.2	37	c.279	CCDS3219.1	3	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501518	0.44455	.	.	ENSG00000121858	ENST00000241261	D	0.87729	-2.29	5.03	5.03	0.67393	.	0.289149	0.34484	N	0.003928	D	0.90345	0.6979	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89982	0.4101	10	0.56958	D	0.05	-18.1307	9.27	0.37666	0.0:0.8956:0.0:0.1044	.	93	P50591	TNF10_HUMAN	F	93	ENSP00000241261:L93F	ENSP00000241261:L93F	L	-	3	2	TNFSF10	173712135	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	0.848000	0.27710	2.487000	0.83934	0.563000	0.77884	TTG	TNFSF10	-	pirsf_TNF_ligand_10/11		0.313	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF10	HGNC	protein_coding	OTTHUMT00000346601.1	C			172229441	-1	no_errors	ENST00000241261	ensembl	human	known	70_37	missense	SNP	1.000	G
TNNT2	7139	genome.wustl.edu	37	1	201341205	201341205	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:201341205G>C	ENST00000509001.1	-	4	339				TNNT2_ENST00000367315.2_Intron|TNNT2_ENST00000367318.5_Intron|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000236918.7_Intron|TNNT2_ENST00000367322.1_Intron|TNNT2_ENST00000458432.2_Intron|TNNT2_ENST00000360372.4_Intron|TNNT2_ENST00000367317.4_Intron|TNNT2_ENST00000421663.2_Intron	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)						ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CAAGAGAAGAGAGAAGAGGTG	0.522																																																	0													161.0	152.0	155.0					1																	201341205		2203	4300	6503	SO:0001627	intron_variant	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.53-36C>G	1.37:g.201341205G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	RNA	SNP	-	NULL	ENST00000509001.1	37	NULL	CCDS30969.1	1																																																																																			TNNT2	-	-		0.522	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	G	NM_000364		201341205	-1	no_errors	ENST00000466570	ensembl	human	known	70_37	rna	SNP	0.374	C
TP53	7157	genome.wustl.edu	37	17	7576889	7576889	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7576889C>G	ENST00000269305.4	-	9	1146	c.957G>C	c.(955-957)aaG>aaC	p.K319N	TP53_ENST00000420246.2_Missense_Mutation_p.K319N|TP53_ENST00000445888.2_Missense_Mutation_p.K319N|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.K319N|TP53_ENST00000455263.2_Missense_Mutation_p.K319N|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	319	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in a sporadic cancer; somatic mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P318fs*15(2)|p.K319N(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.K320fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGTTTCTTCTTTGGCTGGG	0.463		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	18	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(2)|Unknown(1)|Insertion - Frameshift(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|urinary_tract(1)|ovary(1)											128.0	118.0	122.0					17																	7576889		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.957G>C	17.37:g.7576889C>G	ENSP00000269305:p.Lys319Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K319N	ENST00000269305.4	37	c.957	CCDS11118.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.93|18.93	3.726701|3.726701	0.69074|0.69074	.|.	.|.	ENSG00000141510|ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690|ENST00000419024	D;D;D;D;D;D|.	0.99784|.	-5.89;-3.89;-5.88;-5.91;-3.89;-6.74|.	5.16|5.16	3.13|3.13	0.36017|0.36017	p53, tetramerisation domain (3);|.	0.105621|.	0.64402|.	D|.	0.000007|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.82716|0.82716	2.605|2.605	0.42293|0.42293	D|D	0.992146|0.992146	P;D;D;D|.	0.89917|.	0.954;0.998;1.0;0.992|.	P;D;D;D|.	0.83275|.	0.848;0.957;0.996;0.955|.	T|T	0.75783|0.75783	-0.3196|-0.3196	10|6	0.87932|0.87932	D|D	0|0	-21.0522|-21.0522	7.9448|7.9448	0.29980|0.29980	0.0:0.8102:0.0:0.1898|0.0:0.8102:0.0:0.1898	.|.	319;319;319;319|.	P04637-2;P04637-3;P04637;Q1MSW8|.	.;.;P53_HUMAN;.|.	N|T	319;319;319;319;319;308;187|6	ENSP00000352610:K319N;ENSP00000269305:K319N;ENSP00000398846:K319N;ENSP00000391127:K319N;ENSP00000391478:K319N;ENSP00000425104:K187N|.	ENSP00000269305:K319N|ENSP00000402130:R6T	K|R	-|-	3|2	2|0	TP53|TP53	7517614|7517614	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.955000|0.955000	0.61496|0.61496	0.426000|0.426000	0.21363|0.21363	1.404000|1.404000	0.46819|0.46819	0.561000|0.561000	0.74099|0.74099	AAG|AGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn		0.463	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7576889	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.998	G
TP53	7157	genome.wustl.edu	37	17	7577077	7577077	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7577077C>G	ENST00000269305.4	-	8	1050	c.861G>C	c.(859-861)gaG>gaC	p.E287D	TP53_ENST00000420246.2_Missense_Mutation_p.E287D|TP53_ENST00000445888.2_Missense_Mutation_p.E287D|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E287D|TP53_ENST00000455263.2_Missense_Mutation_p.E287D|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCGGAGATTCTCTTCCTCTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	49	Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - coding silent(5)|Unknown(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(20)|large_intestine(4)|urinary_tract(4)|breast(4)|bone(4)|liver(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(1)|lung(1)											99.0	85.0	89.0					17																	7577077		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.861G>C	17.37:g.7577077C>G	ENSP00000269305:p.Glu287Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E287D	ENST00000269305.4	37	c.861	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277294	0.05679	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.12	-2.61	0.06171	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.602197	0.18632	N	0.135543	D	0.98308	0.9439	L	0.46885	1.475	0.39477	D	0.967813	B;P;B;B	0.39404	0.0;0.672;0.0;0.001	B;B;B;B	0.43386	0.003;0.418;0.015;0.012	D	0.96522	0.9386	10	0.11485	T	0.65	-7.7207	0.4001	0.00424	0.3649:0.1601:0.2487:0.2262	.	287;287;287;287	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	287;287;287;287;287;276;155	ENSP00000352610:E287D;ENSP00000269305:E287D;ENSP00000398846:E287D;ENSP00000391127:E287D;ENSP00000391478:E287D;ENSP00000425104:E155D	ENSP00000269305:E287D	E	-	3	2	TP53	7517802	0.003000	0.15002	0.718000	0.30602	0.110000	0.19582	-1.117000	0.03283	-0.786000	0.04516	-0.367000	0.07326	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577077	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.910	G
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000420246.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	GRCh37	CM993218	TP53	M	rs121912660						77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R280K	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577099	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP210L	91181	genome.wustl.edu	37	1	154130022	154130022	+	5'Flank	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:154130022C>T	ENST00000368559.3	-	0	0				TPM3_ENST00000341372.3_3'UTR|TPM3_ENST00000328159.4_3'UTR|TPM3_ENST00000271850.7_3'UTR|TPM3_ENST00000341485.5_3'UTR|TPM3_ENST00000330188.9_3'UTR|NUP210L_ENST00000271854.3_5'Flank|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368533.3_3'UTR	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTTAAAGATCAGCCCTCAGT	0.582																																																	0																																										SO:0001631	upstream_gene_variant	7170			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852		1.37:g.154130022C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	RNA	SNP	-	NULL	ENST00000368559.3	37	NULL	CCDS41399.1	1																																																																																			TPM3	-	-		0.582	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154130022	-1	no_errors	ENST00000312970	ensembl	human	known	70_37	rna	SNP	1.000	T
TPO	7173	genome.wustl.edu	37	2	1440117	1440117	+	Missense_Mutation	SNP	C	C	T	rs138509145		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:1440117C>T	ENST00000345913.4	+	5	534	c.443C>T	c.(442-444)gCg>gTg	p.A148V	TPO_ENST00000382201.3_Missense_Mutation_p.A148V|TPO_ENST00000382198.1_Missense_Mutation_p.A148V|TPO_ENST00000349624.3_Missense_Mutation_p.A148V|TPO_ENST00000382269.3_Missense_Mutation_p.A148V|TPO_ENST00000346956.3_Missense_Mutation_p.A148V|TPO_ENST00000329066.4_Missense_Mutation_p.A148V|TPO_ENST00000337415.3_Missense_Mutation_p.A148V|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.A148V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	148					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A148E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGCCTGGCGAACAAATAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	132.0	127.0	129.0		443,443,443,443,443,443	3.3	0.5	2	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	64,64,64,64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	148/934,148/934,148/877,148/877,148/890,148/761	1440117	2,13004	2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.443C>T	2.37:g.1440117C>T	ENSP00000318820:p.Ala148Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A148V	ENST00000345913.4	37	c.443	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192264	0.38707	0.0	2.33E-4	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.14	3.33	0.38152	.	0.506549	0.22588	N	0.058121	T	0.67906	0.2943	M	0.75447	2.3	0.25261	N	0.989598	D;P;D;D;D	0.89917	1.0;0.828;1.0;1.0;0.998	D;B;D;D;P	0.79784	0.978;0.236;0.993;0.978;0.741	T	0.58278	-0.7664	10	0.48119	T	0.1	-13.8607	9.033	0.36271	0.0:0.8241:0.0:0.1759	.	148;148;148;148;148	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	V	148;148;148;148;148;148;148;148;148;148;77	ENSP00000371704:A148V;ENSP00000337263:A148V;ENSP00000318820:A148V;ENSP00000263886:A148V;ENSP00000332044:A148V;ENSP00000444840:A148V;ENSP00000329869:A148V;ENSP00000371636:A148V;ENSP00000390994:A148V;ENSP00000371633:A148V;ENSP00000405788:A77V	ENSP00000329869:A148V	A	+	2	0	TPO	1419124	0.870000	0.30015	0.536000	0.28039	0.033000	0.12548	1.478000	0.35442	0.560000	0.29169	0.313000	0.20887	GCG	TPO	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.443	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1440117	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.825	T
TPO	7173	genome.wustl.edu	37	2	1491622	1491622	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:1491622C>T	ENST00000345913.4	+	10	1718	c.1627C>T	c.(1627-1629)Ctt>Ttt	p.L543F	TPO_ENST00000382201.3_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.L370F|TPO_ENST00000349624.3_Missense_Mutation_p.L370F|TPO_ENST00000346956.3_Missense_Mutation_p.L543F|TPO_ENST00000329066.4_Missense_Mutation_p.L543F|TPO_ENST00000337415.3_Missense_Mutation_p.L543F|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	543					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGAGGCCTTCTTGCAAGACC	0.493																																																	0													109.0	89.0	96.0					2																	1491622		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1627C>T	2.37:g.1491622C>T	ENSP00000318820:p.Leu543Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L543F	ENST00000345913.4	37	c.1627	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648293	0.29336	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.88	4.0	0.46444	.	0.201989	0.42964	D	0.000627	T	0.64159	0.2573	L	0.43646	1.37	0.51767	D	0.999937	P;D;P	0.54964	0.815;0.969;0.847	P;P;P	0.49085	0.45;0.6;0.586	T	0.62374	-0.6868	10	0.36615	T	0.2	-21.4084	12.4045	0.55432	0.306:0.694:0.0:0.0	.	543;370;543	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	F	543;543;543;370;543;370;472	ENSP00000337263:L543F;ENSP00000318820:L543F;ENSP00000263886:L543F;ENSP00000332044:L370F;ENSP00000329869:L543F;ENSP00000371633:L370F;ENSP00000405788:L472F	ENSP00000329869:L543F	L	+	1	0	TPO	1470629	0.061000	0.20836	0.033000	0.17914	0.338000	0.28826	0.467000	0.22035	1.032000	0.39892	0.591000	0.81541	CTT	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.493	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1491622	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.162	T
TRAF3IP3	80342	genome.wustl.edu	37	1	209949007	209949007	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:209949007G>C	ENST00000367024.1	+	11	1495	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E327Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E307Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E63Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E63Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	327						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGCTCTGAAGGAGGACTGGAG	0.617																																																	0													56.0	56.0	56.0					1																	209949007		2203	4300	6503	SO:0001583	missense	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.979G>C	1.37:g.209949007G>C	ENSP00000355991:p.Glu327Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.E327Q	ENST00000367024.1	37	c.979	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930397	0.34096	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.78246	-1.11;-1.16;-1.16;-1.16;-1.16;-1.11;-1.11;-1.16	4.78	4.78	0.61160	.	0.328943	0.27802	N	0.017799	T	0.69931	0.3166	L	0.58101	1.795	0.32646	N	0.520056	B;B;P;P	0.39576	0.205;0.205;0.679;0.624	B;B;B;B	0.36464	0.05;0.05;0.225;0.173	T	0.78630	-0.2129	10	0.62326	D	0.03	-16.5073	6.2502	0.20842	0.0946:0.0:0.72:0.1854	.	327;307;327;307	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Q	307;327;307;327;307;63;63;63	ENSP00000383743:E307Q;ENSP00000355992:E327Q;ENSP00000355993:E307Q;ENSP00000355991:E327Q;ENSP00000010338:E307Q;ENSP00000355990:E63Q;ENSP00000418906:E63Q;ENSP00000417417:E63Q	ENSP00000010338:E307Q	E	+	1	0	TRAF3IP3	208015630	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.681000	0.37618	2.196000	0.70406	0.563000	0.77884	GAG	TRAF3IP3	-	NULL		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209949007	+1	no_errors	ENST00000367024	ensembl	human	known	70_37	missense	SNP	1.000	C
TRAF4	9618	genome.wustl.edu	37	17	27076945	27076945	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:27076945G>A	ENST00000262395.5	+	0	1892				AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.E425K	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGGAATTGGGGAGGGAGAAAG	0.527											OREG0024284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	9618			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.*350G>A	17.37:g.27076945G>A		Somatic	791	WXS	Illumina HiSeq	Phase_IV	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING,pfscan_Znf_TRAF	p.E425K	ENST00000262395.5	37	c.1273	CCDS11243.1	17																																																																																			TRAF4	-	NULL		0.527	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	G	NM_145751		27076945	+1	no_errors	ENST00000444415	ensembl	human	novel	70_37	missense	SNP	0.007	A
TRAF7	84231	genome.wustl.edu	37	16	2225536	2225536	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2225536G>C	ENST00000326181.6	+	17	1671	c.1539G>C	c.(1537-1539)aaG>aaC	p.K513N		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	513					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGAAGTTGAAGAAGGAGCTCA	0.622																																																	0													90.0	88.0	89.0					16																	2225536		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1539G>C	16.37:g.2225536G>C	ENSP00000318944:p.Lys513Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K513N	ENST00000326181.6	37	c.1539	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735701	0.69189	.	.	ENSG00000131653	ENST00000326181	T	0.63744	-0.06	4.49	3.53	0.40419	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.68483	0.958	T	0.68591	-0.5368	10	0.27785	T	0.31	-36.247	12.0752	0.53638	0.0846:0.0:0.9154:0.0	.	513	Q6Q0C0	TRAF7_HUMAN	N	513	ENSP00000318944:K513N	ENSP00000318944:K513N	K	+	3	2	TRAF7	2165537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.952000	0.56691	1.255000	0.44051	0.561000	0.74099	AAG	TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	G	NM_032271		2225536	+1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	C
TRAT1	50852	genome.wustl.edu	37	3	108572683	108572683	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:108572683C>G	ENST00000295756.6	+	6	750	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	TRAT1_ENST00000426646.1_Missense_Mutation_p.L137V	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	174					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TCCCATCAGACTGTTTGGATT	0.423																																																	0													108.0	111.0	110.0					3																	108572683		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.520C>G	3.37:g.108572683C>G	ENSP00000295756:p.Leu174Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZX5	Missense_Mutation	SNP	NULL	p.L174V	ENST00000295756.6	37	c.520	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041864	0.75732	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.53423	0.67;0.62	5.85	4.98	0.66077	.	0.000000	0.49305	D	0.000157	T	0.65719	0.2718	M	0.69823	2.125	0.35445	D	0.795234	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76146	-0.3066	10	0.87932	D	0	-23.8213	10.914	0.47124	0.0:0.9141:0.0:0.0859	.	137;174	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	V	174;137	ENSP00000295756:L174V;ENSP00000410097:L137V	ENSP00000295756:L174V	L	+	1	2	TRAT1	110055373	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	1.104000	0.31074	1.483000	0.48342	0.655000	0.94253	CTG	TRAT1	-	NULL		0.423	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	C	NM_016388		108572683	+1	no_errors	ENST00000295756	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM27	5987	genome.wustl.edu	37	6	28875230	28875230	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:28875230G>A	ENST00000377199.3	-	7	1276				TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTAAGGGGAGAGGGATTGGG	0.433			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0																																										SO:0001627	intron_variant	5987			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.920-191C>T	6.37:g.28875230G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	RNA	SNP	-	NULL	ENST00000377199.3	37	NULL	CCDS4654.1	6																																																																																			TRIM27	-	-		0.433	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	G	NM_030950		28875230	-1	no_errors	ENST00000467742	ensembl	human	known	70_37	rna	SNP	0.000	A
TRIM61	391712	genome.wustl.edu	37	4	165890861	165890861	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:165890861C>G	ENST00000329314.5	-	3	906	c.294G>C	c.(292-294)aaG>aaC	p.K98N		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GATTATGCTTCTTACACACAT	0.433																																																	0													6.0	7.0	7.0					4																	165890861		1681	3301	4982	SO:0001583	missense	391712				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24339	protein-coding gene	gene with protein product			"""ring finger protein 35"", ""tripartite motif-containing 61"""	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.294G>C	4.37:g.165890861C>G	ENSP00000332288:p.Lys98Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.K98N	ENST00000329314.5	37	c.294	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422795	0.43020	.	.	ENSG00000183439	ENST00000329314	T	0.41400	1.0	3.22	-2.38	0.06622	Zinc finger, B-box (2);	.	.	.	.	T	0.44767	0.1309	L	0.61036	1.89	0.20638	N	0.999876	B	0.34255	0.445	P	0.44422	0.449	T	0.49744	-0.8907	9	0.39692	T	0.17	.	9.0083	0.36127	0.0:0.3578:0.0:0.6422	.	98	Q5EBN2	TRI61_HUMAN	N	98	ENSP00000332288:K98N	ENSP00000332288:K98N	K	-	3	2	TRIM61	166110311	0.000000	0.05858	0.010000	0.14722	0.329000	0.28539	-1.100000	0.03339	-0.762000	0.04664	0.580000	0.79431	AAG	TRIM61	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.433	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	C	XM_373038		165890861	-1	no_errors	ENST00000329314	ensembl	human	known	70_37	missense	SNP	0.833	G
TRIM68	55128	genome.wustl.edu	37	11	4623468	4623468	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:4623468C>T	ENST00000300747.5	-	4	986	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	233					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGATGAGCTCGCTATGGTTC	0.592																																																	0													112.0	109.0	110.0					11																	4623468		2201	4298	6499	SO:0001583	missense	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.697G>A	11.37:g.4623468C>T	ENSP00000300747:p.Glu233Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E233K	ENST00000300747.5	37	c.697	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.145338	0.01714	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04234	3.67;3.67	4.17	-3.25	0.05079	.	1.513550	0.04269	N	0.341708	T	0.03695	0.0105	L	0.40543	1.245	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.43048	-0.9415	10	0.06099	T	0.92	.	4.6361	0.12525	0.0:0.3545:0.2959:0.3496	.	233	Q6AZZ1	TRI68_HUMAN	K	233;10	ENSP00000300747:E233K;ENSP00000434681:E10K	ENSP00000300747:E233K	E	-	1	0	TRIM68	4580044	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-1.043000	0.03535	-0.613000	0.05694	0.491000	0.48974	GAG	TRIM68	-	NULL		0.592	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1	C	NM_018073		4623468	-1	no_errors	ENST00000300747	ensembl	human	known	70_37	missense	SNP	0.000	T
TRIM9	114088	genome.wustl.edu	37	14	51561606	51561606	+	Missense_Mutation	SNP	G	G	A	rs573997618		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:51561606G>A	ENST00000298355.3	-	1	1173	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	18					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATGGGCTCCCGATAGAAGGAG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14967	0.0		0.0	False		,,,				2504	0.001																0													23.0	28.0	26.0					14																	51561606		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.52C>T	14.37:g.51561606G>A	ENSP00000298355:p.Arg18Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R18W	ENST00000298355.3	37	c.52	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730465	0.69074	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	D;T;D	0.86432	-2.12;2.2;-2.12	5.24	3.37	0.38596	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.81942	2.565	0.48901	D	0.999723	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.971;0.99;0.948	D	0.92499	0.6007	10	0.66056	D	0.02	.	12.1853	0.54234	0.0:0.0:0.6895:0.3105	.	18;18;18	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	W	18	ENSP00000298355:R18W;ENSP00000342970:R18W;ENSP00000353561:R18W	ENSP00000298355:R18W	R	-	1	2	TRIM9	50631356	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	4.234000	0.58658	0.749000	0.32854	-0.314000	0.08810	CGG	TRIM9	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.627	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51561606	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14290885	14290885	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:14290885G>A	ENST00000344204.4	+	5	625	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIO_ENST00000537187.1_Missense_Mutation_p.E201K|TRIO_ENST00000509967.2_Missense_Mutation_p.E152K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	201	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTAACTCCTGAGTTTGATGG	0.413																																																	0													78.0	75.0	76.0					5																	14290885		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.601G>A	5.37:g.14290885G>A	ENSP00000339299:p.Glu201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E201K	ENST00000344204.4	37	c.601	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375178	0.82682	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63255	-0.03;-0.03;-0.03	5.32	5.32	0.75619	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.052239	0.85682	D	0.000000	T	0.74688	0.3749	M	0.85630	2.765	0.80722	D	1	P;P	0.40032	0.699;0.643	P;B	0.45753	0.492;0.245	T	0.79366	-0.1833	10	0.72032	D	0.01	.	19.0061	0.92851	0.0:0.0:1.0:0.0	.	152;201	F5H228;O75962	.;TRIO_HUMAN	K	201;201;152	ENSP00000339299:E201K;ENSP00000446348:E201K;ENSP00000445592:E152K	ENSP00000339299:E201K	E	+	1	0	TRIO	14343885	1.000000	0.71417	0.967000	0.41034	0.987000	0.75469	9.869000	0.99810	2.506000	0.84524	0.563000	0.77884	GAG	TRIO	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.413	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14290885	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	A
TRO	7216	genome.wustl.edu	37	X	54950074	54950074	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:54950074C>T	ENST00000173898.7	+	3	1221	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	TRO_ENST00000375022.4_Missense_Mutation_p.S370F|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.S370F|TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	370					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGATAGCCTCTGCTCAGACC	0.587																																																	0													34.0	36.0	35.0					X																	54950074		2010	4170	6180	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1109C>T	X.37:g.54950074C>T	ENSP00000173898:p.Ser370Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S370F	ENST00000173898.7	37	c.1109	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	C	0.553	-0.848588	0.02651	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.44482	0.92;0.92;0.92	2.87	1.01	0.19927	.	.	.	.	.	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.013;0.056	B;B	0.20577	0.018;0.03	T	0.22487	-1.0215	8	.	.	.	.	3.5745	0.07929	0.0:0.5817:0.259:0.1593	.	370;370	Q96SX2;Q12816	.;TROP_HUMAN	F	370	ENSP00000173898:S370F;ENSP00000318278:S370F;ENSP00000364162:S370F	.	S	+	2	0	TRO	54966799	0.007000	0.16637	0.000000	0.03702	0.015000	0.08874	0.128000	0.15810	0.136000	0.18733	0.502000	0.49764	TCT	TRO	-	NULL		0.587	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54950074	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.000	T
TROAP	10024	genome.wustl.edu	37	12	49724818	49724818	+	Intron	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr12:49724818C>G	ENST00000257909.3	+	13	2174				TROAP_ENST00000551245.1_Silent_p.L730L|TROAP_ENST00000547923.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CAGGCAATCTCATGCTTCCAC	0.617																																																	0																																										SO:0001627	intron_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2098+92C>G	12.37:g.49724818C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	NULL	p.L730	ENST00000257909.3	37	c.2190	CCDS8784.1	12																																																																																			TROAP	-	NULL		0.617	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	C	NM_005480		49724818	+1	no_errors	ENST00000551245	ensembl	human	novel	70_37	silent	SNP	0.000	G
TRPM2	7226	genome.wustl.edu	37	21	45815323	45815323	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:45815323C>T	ENST00000397928.1	+	12	2266	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	TRPM2_ENST00000397932.2_Silent_p.L607L|TRPM2_ENST00000300482.5_Silent_p.L607L|TRPM2_ENST00000300481.9_Silent_p.L587L|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	607					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCGGTCCCTCTACAAGCGTT	0.617																																																	0													115.0	101.0	106.0					21																	45815323		2203	4299	6502	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1821C>T	21.37:g.45815323C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.L607	ENST00000397928.1	37	c.1821	CCDS13710.1	21																																																																																			TRPM2	-	NULL		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45815323	+1	no_errors	ENST00000300482	ensembl	human	known	70_37	silent	SNP	1.000	T
TRUB1	142940	genome.wustl.edu	37	10	116698257	116698257	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:116698257C>T	ENST00000298746.3	+	1	306	c.245C>T	c.(244-246)tCa>tTa	p.S82L	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	82					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GGGCCCACTTCAGCCGAGCTG	0.637																																																	0													12.0	13.0	12.0					10																	116698257		2201	4291	6492	SO:0001583	missense	142940			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.245C>T	10.37:g.116698257C>T	ENSP00000298746:p.Ser82Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R716|Q53ES2	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB	p.S82L	ENST00000298746.3	37	c.245	CCDS7591.1	10	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011210	0.93346	.	.	ENSG00000165832	ENST00000298746	T	0.22336	1.96	6.17	5.26	0.73747	Pseudouridine synthase, catalytic domain (1);	0.064498	0.64402	D	0.000005	T	0.43853	0.1266	M	0.63843	1.955	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.40403	-0.9565	10	0.87932	D	0	-11.7998	14.0986	0.65039	0.1509:0.8491:0.0:0.0	.	82	Q8WWH5	TRUB1_HUMAN	L	82	ENSP00000298746:S82L	ENSP00000298746:S82L	S	+	2	0	TRUB1	116688247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.859000	0.62954	1.590000	0.49995	0.655000	0.94253	TCA	TRUB1	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB		0.637	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB1	HGNC	protein_coding	OTTHUMT00000050504.1	C	NM_139169		116698257	+1	no_errors	ENST00000298746	ensembl	human	known	70_37	missense	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2129132	2129132	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2129132C>T	ENST00000219476.3	+	27	3696	c.3066C>T	c.(3064-3066)ctC>ctT	p.L1022L	TSC2_ENST00000353929.4_Silent_p.L979L|TSC2_ENST00000350773.4_Silent_p.L1022L|TSC2_ENST00000382538.6_Silent_p.L930L|TSC2_ENST00000401874.2_Silent_p.L978L|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Silent_p.L942L|TSC2_ENST00000568454.1_Silent_p.L989L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1022					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCTGGAGCTCACGGAAACCT	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													124.0	99.0	107.0					16																	2129132		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3066C>T	16.37:g.2129132C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.L1022	ENST00000219476.3	37	c.3066	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2129132	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2129168	2129168	+	Silent	SNP	C	C	G	rs562998574		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:2129168C>G	ENST00000219476.3	+	27	3732	c.3102C>G	c.(3100-3102)gtC>gtG	p.V1034V	TSC2_ENST00000353929.4_Silent_p.V991V|TSC2_ENST00000350773.4_Silent_p.V1034V|TSC2_ENST00000382538.6_Silent_p.V942V|TSC2_ENST00000401874.2_Silent_p.V990V|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Silent_p.V954V|TSC2_ENST00000568454.1_Silent_p.V1001V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1034					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCGATACGTCTTCTCCAACT	0.617			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				C|||	1	0.000199681	0.0	0.0	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.001						yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													111.0	89.0	97.0					16																	2129168		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3102C>G	16.37:g.2129168C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.V1034	ENST00000219476.3	37	c.3102	CCDS10458.1	16																																																																																			TSC2	-	NULL		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2129168	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	G
TSSC4	10078	genome.wustl.edu	37	11	2424570	2424570	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:2424570G>C	ENST00000333256.6	+	3	1150	c.707G>C	c.(706-708)gGa>gCa	p.G236A	AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380996.5_Missense_Mutation_p.G172A|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.G236A|TSSC4_ENST00000467308.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	236										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGGTGGGAGAGCCAGGC	0.682																																																	0													33.0	41.0	38.0					11																	2424570		2200	4299	6499	SO:0001583	missense	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.707G>C	11.37:g.2424570G>C	ENSP00000331087:p.Gly236Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	NULL	p.G236A	ENST00000333256.6	37	c.707	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.887332	0.00060	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.23348	2.3;2.56;1.91;2.56	2.68	0.649	0.17806	.	1.319570	0.05293	U	0.521542	T	0.15565	0.0375	L	0.36672	1.1	0.09310	N	1	B;B	0.32101	0.356;0.356	B;B	0.30401	0.115;0.115	T	0.16867	-1.0388	10	0.07644	T	0.81	-2.5086	2.3273	0.04226	0.1209:0.1792:0.5016:0.1983	.	236;172	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	A	172;236;172;236	ENSP00000370384:G172A;ENSP00000331087:G236A;ENSP00000416937:G172A;ENSP00000411224:G236A	ENSP00000331087:G236A	G	+	2	0	TSSC4	2381146	0.937000	0.31787	0.000000	0.03702	0.015000	0.08874	0.497000	0.22514	0.182000	0.20032	0.462000	0.41574	GGA	TSSC4	-	NULL		0.682	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	G	NM_005706		2424570	+1	no_errors	ENST00000333256	ensembl	human	known	70_37	missense	SNP	0.000	C
TTC6	319089	genome.wustl.edu	37	14	38265554	38265554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr14:38265554C>T	ENST00000476979.1	+	3	327	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	TTC6_ENST00000267368.7_Nonsense_Mutation_p.Q14*|TTC6_ENST00000382320.3_5'UTR|TTC6_ENST00000553443.1_Nonsense_Mutation_p.Q1283*|TTC6_ENST00000554555.1_3'UTR			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	14										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TACTATTTATCAAATAGCAGA	0.229																																																	0													18.0	21.0	20.0					14																	38265554		2104	4130	6234	SO:0001587	stop_gained	319089			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.40C>T	14.37:g.38265554C>T	ENSP00000417788:p.Gln14*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY88|Q96CE6	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q14*	ENST00000476979.1	37	c.40		14	.	.	.	.	.	.	.	.	.	.	C	38	7.102319	0.98063	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368	.	.	.	5.62	5.62	0.85841	.	0.148929	0.46758	D	0.000262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.0415	16.5935	0.84789	0.0:1.0:0.0:0.0	.	.	.	.	X	1283;14;14	.	ENSP00000267368:Q14X	Q	+	1	0	TTC6	37335305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.049000	0.49869	2.634000	0.89283	0.655000	0.94253	CAA	TTC6	-	NULL		0.229	TTC6-002	KNOWN	basic	protein_coding	TTC6	HGNC	protein_coding	OTTHUMT00000348621.2	C	XM_002343299		38265554	+1	no_errors	ENST00000478811	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TTLL9	164395	genome.wustl.edu	37	20	30526994	30526994	+	Missense_Mutation	SNP	G	G	A	rs200854952		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:30526994G>A	ENST00000375938.4	+	14	1421	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	TTLL9_ENST00000535842.1_Missense_Mutation_p.D390N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375921.2_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	390					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAATGATGGCCCTGT	0.592																																																	0								G	ASN/ASP	13,3915		0,13,1951	75.0	82.0	80.0		1168	5.7	1.0	20		80	0,8278		0,0,4139	yes	missense	TTLL9	NM_001008409.2	23	0,13,6090	AA,AG,GG		0.0,0.331,0.1065	benign	390/440	30526994	13,12193	1964	4139	6103	SO:0001583	missense	164395			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1168G>A	20.37:g.30526994G>A	ENSP00000365105:p.Asp390Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D390N	ENST00000375938.4	37	c.1168	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725949	0.48833	0.00331	0.0	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03663	3.85;3.85	5.66	5.66	0.87406	.	0.107041	0.64402	D	0.000009	T	0.04588	0.0125	L	0.45137	1.4	0.80722	D	1	B;B	0.32203	0.36;0.123	B;B	0.30029	0.11;0.019	T	0.51379	-0.8713	10	0.13108	T	0.6	.	16.4736	0.84125	0.0:0.0:1.0:0.0	.	390;292	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	N	390	ENSP00000365105:D390N;ENSP00000442515:D390N	ENSP00000365105:D390N	D	+	1	0	TTLL9	29990655	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.425000	0.66470	2.680000	0.91292	0.561000	0.74099	GAT	TTLL9	-	NULL		0.592	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		G	NM_001008409		30526994	+1	no_errors	ENST00000375938	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179507006	179507006	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:179507006C>T	ENST00000591111.1	-	169	35817	c.35593G>A	c.(35593-35595)Gaa>Aaa	p.E11865K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4633K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13506K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4566K|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10938K|TTN_ENST00000460472.2_Missense_Mutation_p.E4441K|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11865	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTACGTTCCGGAAGTAAT	0.313																																																	0													57.0	52.0	54.0					2																	179507006		1807	4068	5875	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35593G>A	2.37:g.179507006C>T	ENSP00000465570:p.Glu11865Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10938K	ENST00000591111.1	37	c.32812		2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404712	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000434777	T;T;T;T	0.64438	-0.1;0.14;0.09;0.12	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64972	0.2647	L	0.46157	1.445	0.36550	D	0.871829	P;P;P;P;D	0.55385	0.598;0.598;0.598;0.598;0.971	B;B;B;B;P	0.47162	0.19;0.19;0.19;0.19;0.54	T	0.73805	-0.3867	9	0.87932	D	0	.	19.494	0.95064	0.0:1.0:0.0:0.0	.	4441;4566;4633;11865;10632	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	K	10938;4441;4633;4566;4441;827;165	ENSP00000343764:E10938K;ENSP00000434586:E4441K;ENSP00000340554:E4633K;ENSP00000352154:E4566K	ENSP00000340554:E4633K	E	-	1	0	TTN	179215251	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.066000	0.64351	2.610000	0.88304	0.591000	0.81541	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.313	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179507006	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179542513	179542513	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:179542513C>T	ENST00000591111.1	-	144	33399	c.33175G>A	c.(33175-33177)Gaa>Aaa	p.E11059K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11376K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10132K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10194	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.438																																																	0													132.0	131.0	131.0					2																	179542513		1860	4087	5947	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33175G>A	2.37:g.179542513C>T	ENSP00000465570:p.Glu11059Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E10132K	ENST00000591111.1	37	c.30394		2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080852	0.36758	.	.	ENSG00000155657	ENST00000342992	T	0.70045	-0.45	6.06	6.06	0.98353	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63674	0.2531	.	.	.	0.80722	D	1	P	0.44816	0.844	B	0.36666	0.23	T	0.68914	-0.5283	8	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	11059	Q8WZ42	TITIN_HUMAN	K	10132	ENSP00000343764:E10132K	ENSP00000343764:E10132K	E	-	1	0	TTN	179250758	0.939000	0.31865	0.411000	0.26484	0.289000	0.27227	3.450000	0.52957	2.882000	0.98803	0.655000	0.94253	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179542513	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.923	T
UACA	55075	genome.wustl.edu	37	15	70961363	70961363	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:70961363C>T	ENST00000322954.6	-	16	1845	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	UACA_ENST00000560441.1_Missense_Mutation_p.E539K|UACA_ENST00000379983.2_Missense_Mutation_p.E541K|UACA_ENST00000539319.1_Missense_Mutation_p.E445K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	554					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GAAGCACCTTCATATTTTACT	0.393																																																	0													165.0	160.0	162.0					15																	70961363		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1660G>A	15.37:g.70961363C>T	ENSP00000314556:p.Glu554Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E554K	ENST00000322954.6	37	c.1660	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680003	0.68042	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.75154	-0.91;-0.87;-0.45	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000011	D	0.86585	0.5968	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	D	0.87957	0.2727	10	0.87932	D	0	-27.9889	18.9525	0.92645	0.0:1.0:0.0:0.0	.	445;554;554;541	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	554;541;530;445	ENSP00000314556:E554K;ENSP00000369319:E541K;ENSP00000438667:E445K	ENSP00000314556:E554K	E	-	1	0	UACA	68748417	1.000000	0.71417	0.919000	0.36401	0.019000	0.09904	7.171000	0.77595	2.476000	0.83614	0.467000	0.42956	GAA	UACA	-	NULL		0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70961363	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE2L6	9246	genome.wustl.edu	37	11	57321968	57321968	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:57321968C>T	ENST00000287156.4	-	3	447	c.252G>A	c.(250-252)caG>caA	p.Q84Q	UBE2L6_ENST00000340573.4_Silent_p.Q18Q	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	84					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						GCAGGCAAATCTGTCCGTTCT	0.542																																																	0													212.0	188.0	196.0					11																	57321968		2201	4296	6497	SO:0001819	synonymous_variant	9246			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.252G>A	11.37:g.57321968C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Q84	ENST00000287156.4	37	c.252	CCDS7960.1	11																																																																																			UBE2L6	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.542	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	C	NM_004223		57321968	-1	no_errors	ENST00000287156	ensembl	human	known	70_37	silent	SNP	0.875	T
UBASH3B	84959	genome.wustl.edu	37	11	122665486	122665486	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:122665486G>A	ENST00000284273.5	+	7	1432	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	353					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCGGCCTTATGAGGACCAGGG	0.507																																																	0													128.0	133.0	131.0					11																	122665486		2202	4299	6501	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1057G>A	11.37:g.122665486G>A	ENSP00000284273:p.Glu353Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E353K	ENST00000284273.5	37	c.1057	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612741	0.46631	.	.	ENSG00000154127	ENST00000284273	T	0.05717	3.4	5.38	4.47	0.54385	.	0.699539	0.14895	N	0.292158	T	0.04452	0.0122	N	0.08118	0	0.49582	D	0.999802	B	0.18013	0.025	B	0.20767	0.031	T	0.47484	-0.9114	10	0.30078	T	0.28	-15.6315	13.8219	0.63325	0.0736:0.0:0.9264:0.0	.	353	Q8TF42	UBS3B_HUMAN	K	353	ENSP00000284273:E353K	ENSP00000284273:E353K	E	+	1	0	UBASH3B	122170696	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	7.442000	0.80503	1.254000	0.44035	0.563000	0.77884	GAG	UBASH3B	-	NULL		0.507	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	G	NM_032873		122665486	+1	no_errors	ENST00000284273	ensembl	human	known	70_37	missense	SNP	0.999	A
UBQLN1	29979	genome.wustl.edu	37	9	86292833	86292833	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:86292833G>A	ENST00000376395.4	-	6	1437	c.914C>T	c.(913-915)tCt>tTt	p.S305F	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S305F	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	305					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						ACCTTCACCAGAGGATGTATT	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)												0													77.0	75.0	75.0					9																	86292833		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.914C>T	9.37:g.86292833G>A	ENSP00000365576:p.Ser305Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S305F	ENST00000376395.4	37	c.914	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.114900	0.94339	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	D;D;D	0.81579	-1.51;-1.51;-1.51	5.82	5.82	0.92795	.	0.190144	0.37761	N	0.001957	D	0.84220	0.5424	L	0.39898	1.24	0.80722	D	1	D;D	0.58970	0.96;0.984	P;P	0.55824	0.785;0.736	D	0.85043	0.0924	10	0.72032	D	0.01	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	305;305	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	F	305;305;102	ENSP00000365576:S305F;ENSP00000257468:S305F;ENSP00000434194:S102F	ENSP00000257468:S305F	S	-	2	0	UBQLN1	85482653	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.311000	0.72835	2.756000	0.94617	0.561000	0.74099	TCT	UBQLN1	-	NULL		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86292833	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	A
UBQLN3	50613	genome.wustl.edu	37	11	5529679	5529679	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr11:5529679G>A	ENST00000311659.4	-	2	1257	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCCTGGCTTTGGCTGA	0.537																																					Ovarian(72;684 1260 12332 41642 52180)												0													154.0	158.0	157.0					11																	5529679		2201	4297	6498	SO:0001819	synonymous_variant	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1110C>T	11.37:g.5529679G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NRE0	Silent	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.S370	ENST00000311659.4	37	c.1110	CCDS7758.1	11																																																																																			UBQLN3	-	NULL		0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	G	NM_017481		5529679	-1	no_errors	ENST00000311659	ensembl	human	known	70_37	silent	SNP	0.066	A
UBR3	130507	genome.wustl.edu	37	2	170863551	170863551	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:170863551C>T	ENST00000272793.5	+	28	4131	c.4081C>T	c.(4081-4083)Cca>Tca	p.P1361S	UBR3_ENST00000392631.1_Missense_Mutation_p.P182S|UBR3_ENST00000418381.1_Missense_Mutation_p.P1361S			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1361					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTCACGTGTCCACTCTGTAG	0.418																																																	0													158.0	142.0	147.0					2																	170863551		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4081C>T	2.37:g.170863551C>T	ENSP00000272793:p.Pro1361Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P1361S	ENST00000272793.5	37	c.4081		2	.	.	.	.	.	.	.	.	.	.	c	26.7	4.759634	0.89932	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	D;D;D;T	0.94576	-3.46;-3.46;-3.46;-1.33	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.88906	2.99	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.994;0.998;0.979	D	0.98483	1.0606	10	0.87932	D	0	.	19.0814	0.93185	0.0:1.0:0.0:0.0	.	1361;182;1361	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	S	1361;1361;1361;182;32	ENSP00000272793:P1361S;ENSP00000396068:P1361S;ENSP00000376408:P182S;ENSP00000389097:P32S	ENSP00000272793:P1361S	P	+	1	0	UBR3	170571797	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.478000	0.81082	2.511000	0.84671	0.454000	0.30748	CCA	UBR3	-	NULL		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170863551	+1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT3A2	167127	genome.wustl.edu	37	5	36039690	36039690	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:36039690G>A	ENST00000282507.3	-	5	1065	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	UGT3A2_ENST00000513300.1_Missense_Mutation_p.H288Y|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.H20Y	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	322					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGGTAGGTGAGCAAAGGCA	0.493																																																	0													144.0	131.0	135.0					5																	36039690		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.964C>T	5.37:g.36039690G>A	ENSP00000282507:p.His322Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H322Y	ENST00000282507.3	37	c.964	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141475	0.37825	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59502	0.26;0.26;0.26	3.18	0.284	0.15701	.	0.957017	0.08606	N	0.920780	T	0.62563	0.2438	M	0.64997	1.995	0.09310	N	1	P;D	0.54964	0.829;0.969	P;P	0.54026	0.625;0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	.	5.6121	0.17410	0.1797:0.0:0.5524:0.2679	.	288;322	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	322;288;20	ENSP00000282507:H322Y;ENSP00000427404:H288Y;ENSP00000445367:H20Y	ENSP00000282507:H322Y	H	-	1	0	UGT3A2	36075447	0.000000	0.05858	0.001000	0.08648	0.174000	0.22865	-0.455000	0.06762	-0.193000	0.10415	-1.094000	0.02160	CAC	UGT3A2	-	pfam_UDP_glucos_trans		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36039690	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	0.012	A
UNC13A	23025	genome.wustl.edu	37	19	17716962	17716962	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17716962G>C	ENST00000519716.2	-	44	5012	c.5013C>G	c.(5011-5013)atC>atG	p.I1671M	UNC13A_ENST00000252773.7_Missense_Mutation_p.I1671M|UNC13A_ENST00000552293.1_Missense_Mutation_p.I1665M|UNC13A_ENST00000550896.1_Missense_Mutation_p.I1644M|UNC13A_ENST00000551649.1_Missense_Mutation_p.I1690M|UNC13A_ENST00000428389.2_Missense_Mutation_p.I1759M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1671					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGCGAGAGGATTCGCAGCA	0.711																																																	0													9.0	9.0	9.0					19																	17716962		1920	4100	6020	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.5013C>G	19.37:g.17716962G>C	ENSP00000429562:p.Ile1671Met	Somatic		WXS	Illumina HiSeq	Phase_IV	E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1759M	ENST00000519716.2	37	c.5277	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219461	0.58560	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84730	-1.86;-1.89;-1.86;-1.78;-1.74;-1.84	2.98	2.98	0.34508	.	0.000000	0.85682	U	0.000000	D	0.90665	0.7072	M	0.84082	2.675	0.43745	D	0.996242	D	0.76494	0.999	D	0.74674	0.984	D	0.90409	0.4408	10	0.87932	D	0	-15.6537	7.4853	0.27429	0.0:0.0:0.7428:0.2572	.	1671	Q9UPW8	UN13A_HUMAN	M	1671;1759;1671;1690;1665;1644	ENSP00000429562:I1671M;ENSP00000400409:I1759M;ENSP00000252773:I1671M;ENSP00000447236:I1690M;ENSP00000447572:I1665M;ENSP00000446831:I1644M	ENSP00000252773:I1671M	I	-	3	3	UNC13A	17577962	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.990000	0.49401	1.701000	0.51217	0.306000	0.20318	ATC	UNC13A	-	NULL		0.711	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17716962	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	missense	SNP	1.000	C
UNC13A	23025	genome.wustl.edu	37	19	17751455	17751455	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:17751455G>A	ENST00000519716.2	-	22	2651	c.2652C>T	c.(2650-2652)ctC>ctT	p.L884L	UNC13A_ENST00000252773.7_Silent_p.L884L|UNC13A_ENST00000552293.1_Silent_p.L884L|UNC13A_ENST00000550896.1_Silent_p.L882L|UNC13A_ENST00000551649.1_Silent_p.L884L|UNC13A_ENST00000428389.2_Silent_p.L972L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	884					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACTTGGAGGAGAGGCAGGCAA	0.597																																																	0													49.0	56.0	54.0					19																	17751455		2161	4250	6411	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2652C>T	19.37:g.17751455G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L972	ENST00000519716.2	37	c.2916	CCDS46013.2	19																																																																																			UNC13A	-	NULL		0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	G	XM_038604		17751455	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	A
UNCX	340260	genome.wustl.edu	37	7	1273250	1273250	+	Silent	SNP	G	G	A	rs559130948		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:1273250G>A	ENST00000316333.8	+	2	480	c.369G>A	c.(367-369)gcG>gcA	p.A123A		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	123					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGGAGAAGGCGTTCAACGAGA	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		8913	0.001		0.0	False		,,,				2504	0.0																0													44.0	44.0	44.0					7																	1273250		2203	4300	6503	SO:0001819	synonymous_variant	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.369G>A	7.37:g.1273250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D221	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A123	ENST00000316333.8	37	c.369	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.677	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	G	NM_001080461		1273250	+1	no_errors	ENST00000316333	ensembl	human	known	70_37	silent	SNP	0.994	A
URM1	81605	genome.wustl.edu	37	9	131151912	131151912	+	3'UTR	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:131151912G>A	ENST00000372850.1	+	0	1944				URM1_ENST00000452446.1_3'UTR|MIR219-2_ENST00000385220.1_lincRNA|URM1_ENST00000372853.4_Intron|RP11-339B21.11_ENST00000609303.1_lincRNA|URM1_ENST00000483206.1_3'UTR					ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						AGGTGGCCCTGAGGGTCTCCC	0.612																																																	0													34.0	31.0	32.0					9																	131151912		2203	4300	6503	SO:0001624	3_prime_UTR_variant	81605			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372850.1:c.*1732G>A	9.37:g.131151912G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000372850.1	37	NULL	CCDS59148.1	9																																																																																			URM1	-	-		0.612	URM1-002	KNOWN	basic|CCDS	protein_coding	URM1	HGNC	protein_coding	OTTHUMT00000054423.1	G	NM_030914		131151912	+1	no_errors	ENST00000483206	ensembl	human	known	70_37	rna	SNP	0.127	A
USP11	8237	genome.wustl.edu	37	X	47106535	47106535	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:47106535G>A	ENST00000218348.3	+	18	2464	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	USP11_ENST00000377107.2_Missense_Mutation_p.E779K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	822	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATGCTGCCGGAGATTCTCAT	0.557																																																	0													81.0	60.0	67.0					X																	47106535		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2464G>A	X.37:g.47106535G>A	ENSP00000218348:p.Glu822Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E822K	ENST00000218348.3	37	c.2464	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066215	0.36470	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.27402	1.67;1.67	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.277260	0.34652	N	0.003796	T	0.36908	0.0984	N	0.26042	0.785	0.45962	D	0.998788	B;D	0.76494	0.091;0.999	B;D	0.85130	0.241;0.997	T	0.10428	-1.0630	10	0.12103	T	0.63	-28.7908	10.7693	0.46312	0.0906:0.0:0.9094:0.0	.	548;822	B3KP28;P51784	.;UBP11_HUMAN	K	779;822	ENSP00000366311:E779K;ENSP00000218348:E822K	ENSP00000218348:E822K	E	+	1	0	USP11	46991479	0.997000	0.39634	0.859000	0.33776	0.777000	0.43975	2.566000	0.45948	2.307000	0.77673	0.431000	0.28591	GAG	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106535	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.993	A
USP20	10868	genome.wustl.edu	37	9	132637226	132637226	+	Silent	SNP	C	C	G	rs565548709		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:132637226C>G	ENST00000315480.4	+	19	2198	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	USP20_ENST00000358355.1_Silent_p.L680L|USP20_ENST00000372429.3_Silent_p.L680L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	680	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCTACGTACTCTTCTACAGGT	0.612																																																	0													54.0	55.0	55.0					9																	132637226		2085	4193	6278	SO:0001819	synonymous_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2040C>G	9.37:g.132637226C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L680	ENST00000315480.4	37	c.2040	CCDS43892.1	9																																																																																			USP20	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.612	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	C			132637226	+1	no_errors	ENST00000315480	ensembl	human	known	70_37	silent	SNP	0.990	G
USP42	84132	genome.wustl.edu	37	7	6154999	6154999	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:6154999C>G	ENST00000306177.5	+	3	445	c.287C>G	c.(286-288)tCt>tGt	p.S96C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	96					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTTTTCCCATCTGAGAAGATT	0.428																																																	0													124.0	115.0	118.0					7																	6154999		1874	4101	5975	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.287C>G	7.37:g.6154999C>G	ENSP00000301962:p.Ser96Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S96C	ENST00000306177.5	37	c.287	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111326	0.77210	.	.	ENSG00000106346	ENST00000306177	T	0.16073	2.37	5.61	4.73	0.59995	.	0.204155	0.35207	N	0.003374	T	0.25269	0.0614	N	0.24115	0.695	0.32728	N	0.509417	D;D	0.63880	0.993;0.988	P;P	0.61328	0.887;0.775	T	0.28038	-1.0056	10	0.51188	T	0.08	.	14.6911	0.69087	0.0:0.9301:0.0:0.0699	.	96;96	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	C	96	ENSP00000301962:S96C	ENSP00000301962:S96C	S	+	2	0	USP42	6121525	0.997000	0.39634	0.980000	0.43619	0.974000	0.67602	4.918000	0.63376	1.368000	0.46115	0.655000	0.94253	TCT	USP42	-	NULL		0.428	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	C	XM_166526		6154999	+1	no_errors	ENST00000306177	ensembl	human	known	70_37	missense	SNP	0.979	G
USP48	84196	genome.wustl.edu	37	1	22055156	22055156	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:22055156C>G	ENST00000308271.9	-	11	2005	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	USP48_ENST00000529637.1_Missense_Mutation_p.E452Q|USP48_ENST00000421625.2_Missense_Mutation_p.E453Q|USP48_ENST00000400301.1_Missense_Mutation_p.E453Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	453					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAGCCATTTCAATACACCAC	0.398																																																	0													175.0	157.0	163.0					1																	22055156		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1357G>C	1.37:g.22055156C>G	ENSP00000309262:p.Glu453Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E453Q	ENST00000308271.9	37	c.1357	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814365	0.90790	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.05855	3.4;3.41;3.38;3.55	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.62723	1.935	0.80722	D	1	D;B;P;D;D;D	0.89917	1.0;0.404;0.824;0.999;0.999;0.997	D;B;B;D;D;P	0.73708	0.981;0.205;0.372;0.961;0.929;0.889	T	0.00022	-1.2338	10	0.66056	D	0.02	.	19.132	0.93412	0.0:1.0:0.0:0.0	.	452;453;453;453;453;453	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	Q	453;453;452;39;75;453	ENSP00000383157:E453Q;ENSP00000309262:E453Q;ENSP00000431949:E452Q;ENSP00000406256:E453Q	ENSP00000309262:E453Q	E	-	1	0	USP48	21927743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.768000	0.95171	0.650000	0.86243	GAA	USP48	-	NULL		0.398	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	C	NM_032236		22055156	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	G
USP6	9098	genome.wustl.edu	37	17	5076112	5076112	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:5076112G>C	ENST00000574788.1	+	38	6290	c.4060G>C	c.(4060-4062)Gat>Cat	p.D1354H	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.D1354H|USP6_ENST00000304328.5_Missense_Mutation_p.D1037H			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1354	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACTTCACCCTGATGAAATTGA	0.428			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													129.0	120.0	123.0					17																	5076112		2203	4300	6503	SO:0001583	missense	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4060G>C	17.37:g.5076112G>C	ENSP00000460380:p.Asp1354His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.D1354H	ENST00000574788.1	37	c.4060	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960695	0.53400	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.32515	1.45;1.45	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047337	0.85682	D	0.000000	T	0.48259	0.1490	M	0.64170	1.965	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.51180	-0.8738	10	0.87932	D	0	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	1037;1354	P35125-2;P35125	.;UBP6_HUMAN	H	1354;1037	ENSP00000250066:D1354H;ENSP00000305473:D1037H	ENSP00000250066:D1354H	D	+	1	0	USP6	5016836	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	9.474000	0.97718	1.313000	0.45069	0.184000	0.17185	GAT	USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5076112	+1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	C
USP6NL	9712	genome.wustl.edu	37	10	11505563	11505563	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:11505563G>A	ENST00000609104.1	-	15	1758	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	USP6NL_ENST00000379237.2_Missense_Mutation_p.S478L|USP6NL_ENST00000277575.5_Missense_Mutation_p.S472L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	455					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTGTGGACCCGATGGGAGTTT	0.498																																																	0													130.0	129.0	129.0					10																	11505563		1927	4127	6054	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1364C>T	10.37:g.11505563G>A	ENSP00000476462:p.Ser455Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S472L	ENST00000609104.1	37	c.1415	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402438	0.25291	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03982	3.74;3.75	5.53	3.64	0.41730	.	0.680494	0.13865	N	0.357409	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.06405	0.002;0.001	T	0.47018	-0.9149	10	0.09843	T	0.71	.	6.0388	0.19722	0.2138:0.0:0.6478:0.1384	.	455;472	Q92738;Q92738-2	US6NL_HUMAN;.	L	455;472;455	ENSP00000277575:S472L;ENSP00000368539:S455L	ENSP00000277575:S472L	S	-	2	0	USP6NL	11545569	0.017000	0.18338	0.009000	0.14445	0.152000	0.21847	1.841000	0.39240	1.467000	0.48044	0.561000	0.74099	TCG	USP6NL	-	NULL		0.498	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	G	NM_014688		11505563	-1	no_errors	ENST00000277575	ensembl	human	known	70_37	missense	SNP	0.003	A
UTRN	7402	genome.wustl.edu	37	6	145079123	145079123	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:145079123C>T	ENST00000367545.3	+	57	8493	c.8493C>T	c.(8491-8493)atC>atT	p.I2831I	UTRN_ENST00000480333.1_3'UTR|UTRN_ENST00000367526.4_Silent_p.I386I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2831	Interaction with SYNM.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTATTACATCAAGTAAGTTG	0.353																																																	0													155.0	145.0	148.0					6																	145079123		2203	4299	6502	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8493C>T	6.37:g.145079123C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I2831	ENST00000367545.3	37	c.8493	CCDS34547.1	6																																																																																			UTRN	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145079123	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	silent	SNP	1.000	T
VIT	5212	genome.wustl.edu	37	2	37035659	37035659	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:37035659C>T	ENST00000389975.3	+	14	1691	c.1389C>T	c.(1387-1389)agC>agT	p.S463S	VIT_ENST00000379241.3_Silent_p.S441S|VIT_ENST00000404084.1_Silent_p.S415S|VIT_ENST00000497382.1_Silent_p.S132S|VIT_ENST00000379242.3_Silent_p.S478S|VIT_ENST00000401530.1_Silent_p.S442S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	463	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACGTGCAGAGCTGGTTTGGCC	0.602																																																	0													41.0	37.0	38.0					2																	37035659		2203	4300	6503	SO:0001819	synonymous_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1389C>T	2.37:g.37035659C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.S478	ENST00000389975.3	37	c.1434	CCDS54347.1	2																																																																																			VIT	-	smart_VWF_A,pfscan_VWF_A		0.602	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		C			37035659	+1	no_errors	ENST00000379242	ensembl	human	known	70_37	silent	SNP	1.000	T
VN1R1	57191	genome.wustl.edu	37	19	57967165	57967165	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:57967165C>T	ENST00000321039.3	-	1	689	c.690G>A	c.(688-690)atG>atA	p.M230I	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	230					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGCCCAAACTCATAAAATCAG	0.413																																																	0													99.0	89.0	92.0					19																	57967165		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.690G>A	19.37:g.57967165C>T	ENSP00000322339:p.Met230Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.M230I	ENST00000321039.3	37	c.690	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	6.161	0.397972	0.11696	.	.	ENSG00000178201	ENST00000321039	T	0.08807	3.05	4.11	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01940	0.0061	N	0.00707	-1.245	0.09310	N	1	B	0.17852	0.024	B	0.25140	0.058	T	0.45264	-0.9273	9	0.33141	T	0.24	.	3.2463	0.06798	0.3664:0.1834:0.3625:0.0876	.	230	Q9GZP7	VN1R1_HUMAN	I	230	ENSP00000322339:M230I	ENSP00000322339:M230I	M	-	3	0	VN1R1	62658977	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.351000	0.07711	-0.509000	0.06532	0.603000	0.83216	ATG	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967165	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	T
VPS13C	54832	genome.wustl.edu	37	15	62207973	62207973	+	Silent	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:62207973G>C	ENST00000261517.5	-	61	8377	c.8304C>G	c.(8302-8304)gtC>gtG	p.V2768V	VPS13C_ENST00000395896.4_Silent_p.V2768V|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Silent_p.V2725V|VPS13C_ENST00000249837.3_Silent_p.V2725V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGGACTAAAGACAGACAGCA	0.443																																																	0													84.0	79.0	81.0					15																	62207973		2203	4300	6503	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8304C>G	15.37:g.62207973G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V2768	ENST00000261517.5	37	c.8304	CCDS32257.1	15																																																																																			VPS13C	-	pfam_VPSAP		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62207973	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.995	C
VPS16	64601	genome.wustl.edu	37	20	2841412	2841412	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr20:2841412C>G	ENST00000380445.3	+	6	605	c.533C>G	c.(532-534)tCc>tGc	p.S178C	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.S178C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	178					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGTGCACCCTCCTGCTGGACT	0.562																																																	0													72.0	64.0	66.0					20																	2841412		2203	4300	6503	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.533C>G	20.37:g.2841412C>G	ENSP00000369810:p.Ser178Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.S178C	ENST00000380445.3	37	c.533	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841794	0.51057	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.50548	0.76;0.74	5.95	5.95	0.96441	Vps16, N-terminal (1);	0.262604	0.38897	N	0.001530	T	0.70692	0.3253	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.69479	0.896;0.964	T	0.71932	-0.4443	10	0.56958	D	0.05	-6.7702	17.8727	0.88815	0.0:1.0:0.0:0.0	.	178;178	Q9H269-2;Q9H269	.;VPS16_HUMAN	C	178;178;60;60	ENSP00000369810:S178C;ENSP00000369836:S178C	ENSP00000369810:S178C	S	+	2	0	VPS16	2789412	0.895000	0.30542	0.579000	0.28588	0.496000	0.33645	4.452000	0.60054	2.826000	0.97356	0.563000	0.77884	TCC	VPS16	-	pfam_Vps16_N,pirsf_VPS16		0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	C	NM_022575		2841412	+1	no_errors	ENST00000380445	ensembl	human	known	70_37	missense	SNP	0.753	G
VPS18	57617	genome.wustl.edu	37	15	41192812	41192812	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:41192812C>T	ENST00000220509.5	+	4	2135	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	599					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TACAAGTTCTCACCCATCCTC	0.622																																																	0													80.0	80.0	80.0					15																	41192812		2203	4300	6503	SO:0001583	missense	57617			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1796C>T	15.37:g.41192812C>T	ENSP00000220509:p.Ser599Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.S599L	ENST00000220509.5	37	c.1796	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653878	0.88056	.	.	ENSG00000104142	ENST00000220509	T	0.16324	2.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.87682	2.9	0.80722	D	1	P	0.42483	0.781	P	0.44732	0.459	T	0.37911	-0.9685	10	0.87932	D	0	-12.8891	20.1278	0.97990	0.0:1.0:0.0:0.0	.	599	Q9P253	VPS18_HUMAN	L	599	ENSP00000220509:S599L	ENSP00000220509:S599L	S	+	2	0	VPS18	38980104	1.000000	0.71417	0.963000	0.40424	0.867000	0.49689	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	TCA	VPS18	-	superfamily_ARM-type_fold		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	C			41192812	+1	no_errors	ENST00000220509	ensembl	human	known	70_37	missense	SNP	1.000	T
VPS4A	27183	genome.wustl.edu	37	16	69352823	69352823	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:69352823C>G	ENST00000254950.11	+	5	597	c.441C>G	c.(439-441)atC>atG	p.I147M	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.I171M|COG8_ENST00000564419.1_5'Flank	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TTTTGCCAATCAAATTCCCAC	0.567																																																	0													115.0	134.0	128.0					16																	69352823		2044	4220	6264	SO:0001583	missense	27183			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.441C>G	16.37:g.69352823C>G	ENSP00000254950:p.Ile147Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.I147M	ENST00000254950.11	37	c.441	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215138	0.39102	.	.	ENSG00000132612	ENST00000254950	D	0.95137	-3.62	6.17	-0.0507	0.13829	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.39397	1.21	0.53688	D	0.999973	B	0.33288	0.406	B	0.31016	0.123	T	0.76377	-0.2981	10	0.15066	T	0.55	-22.6369	6.4987	0.22155	0.1253:0.4235:0.0:0.4512	.	147	Q9UN37	VPS4A_HUMAN	M	147	ENSP00000254950:I147M	ENSP00000254950:I147M	I	+	3	3	VPS4A	67910324	0.986000	0.35501	0.998000	0.56505	0.994000	0.84299	0.248000	0.18198	-0.032000	0.13758	-0.302000	0.09304	ATC	VPS4A	-	NULL		0.567	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	C	NM_013245		69352823	+1	no_errors	ENST00000254950	ensembl	human	known	70_37	missense	SNP	0.993	G
VPS9D1	9605	genome.wustl.edu	37	16	89785456	89785456	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:89785456C>G	ENST00000389386.3	-	2	278	c.154G>C	c.(154-156)Gaa>Caa	p.E52Q	ZNF276_ENST00000289816.5_5'Flank|ZNF276_ENST00000568064.1_5'Flank|ZNF276_ENST00000443381.2_5'Flank|ZNF276_ENST00000446326.2_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_5'UTR	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	52					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCACTTCTTCTAGTAACACC	0.572																																																	0													124.0	128.0	127.0					16																	89785456		1902	4112	6014	SO:0001583	missense	9605			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.154G>C	16.37:g.89785456C>G	ENSP00000374037:p.Glu52Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.E52Q	ENST00000389386.3	37	c.154	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727664	0.48833	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	T	0.29655	1.56	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.68952	2.095	0.43740	D	0.99623	D	0.58970	0.984	P	0.52109	0.69	T	0.49072	-0.8977	10	0.72032	D	0.01	-28.613	14.5798	0.68278	0.0:1.0:0.0:0.0	.	52	Q9Y2B5	CP007_HUMAN	Q	52;83	ENSP00000374037:E52Q	ENSP00000261625:E83Q	E	-	1	0	C16orf7	88312957	1.000000	0.71417	0.851000	0.33527	0.178000	0.23041	3.967000	0.56802	2.187000	0.69744	0.561000	0.74099	GAA	VPS9D1	-	NULL		0.572	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	C	NM_004913		89785456	-1	no_errors	ENST00000389386	ensembl	human	known	70_37	missense	SNP	1.000	G
VRK3	51231	genome.wustl.edu	37	19	50512551	50512551	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:50512551G>A	ENST00000599538.1	-	4	895	c.231C>T	c.(229-231)ttC>ttT	p.F77F	VRK3_ENST00000594092.1_Silent_p.F77F|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Silent_p.F77F|VRK3_ENST00000316763.3_Silent_p.F77F|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Silent_p.F77F|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601341.1_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	77					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CACCATCTGAGAAGAGGGATA	0.463																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0													210.0	202.0	204.0					19																	50512551		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.231C>T	19.37:g.50512551G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.F77	ENST00000599538.1	37	c.231	CCDS12791.1	19																																																																																			VRK3	-	NULL		0.463	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	G	NM_016440		50512551	-1	no_errors	ENST00000316763	ensembl	human	known	70_37	silent	SNP	0.001	A
VWA5B2	90113	genome.wustl.edu	37	3	183956658	183956658	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:183956658C>G	ENST00000426955.2	+	13	2299	c.2199C>G	c.(2197-2199)ttC>ttG	p.F733L	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Missense_Mutation_p.F515L|MIR1224_ENST00000408193.1_RNA	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	744										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						CAGCTCCATTCAAGGTGAGAT	0.532																																																	0													14.0	16.0	15.0					3																	183956658		692	1591	2283	SO:0001583	missense	90113				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.2199C>G	3.37:g.183956658C>G	ENSP00000398688:p.Phe733Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN7	Missense_Mutation	SNP	NULL	p.F733L	ENST00000426955.2	37	c.2199	CCDS54686.1	3	.	.	.	.	.	.	.	.	.	.	C	1.613	-0.523605	0.04141	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.16073	3.03;2.37	4.46	4.46	0.54185	.	1.363140	0.04865	N	0.444786	T	0.13457	0.0326	L	0.29908	0.895	0.41113	D	0.985753	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27673	-1.0067	10	0.09843	T	0.71	.	8.6206	0.33859	0.0:0.8978:0.0:0.1022	.	515;733;744	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	L	733;515	ENSP00000398688:F733L;ENSP00000273794:F515L	ENSP00000273794:F515L	F	+	3	2	VWA5B2	185439352	0.922000	0.31269	1.000000	0.80357	0.205000	0.24178	0.784000	0.26816	2.481000	0.83766	0.563000	0.77884	TTC	VWA5B2	-	NULL		0.532	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	C	XM_291077		183956658	+1	no_errors	ENST00000426955	ensembl	human	known	70_37	missense	SNP	0.999	G
VWA8	23078	genome.wustl.edu	37	13	42144794	42144794	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr13:42144794C>G	ENST00000379310.3	-	44	5487	c.5419G>C	c.(5419-5421)Gaa>Caa	p.E1807Q	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1807	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCTGTCCCTTCTAACGTGTGG	0.423																																																	0													136.0	121.0	126.0					13																	42144794		1925	4141	6066	SO:0001583	missense	23078			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5419G>C	13.37:g.42144794C>G	ENSP00000368612:p.Glu1807Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E1807Q	ENST00000379310.3	37	c.5419	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296540	0.81025	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.14391	2.51	5.82	4.1	0.47936	von Willebrand factor, type A (3);	0.106709	0.64402	N	0.000006	T	0.38825	0.1055	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.25984	-1.0116	10	0.72032	D	0.01	.	11.5444	0.50685	0.0:0.7999:0.1325:0.0676	.	1807	A3KMH1	K0564_HUMAN	Q	1711;1807	ENSP00000368612:E1807Q	ENSP00000251030:E1711Q	E	-	1	0	KIAA0564	41042794	1.000000	0.71417	0.802000	0.32245	0.990000	0.78478	3.740000	0.55082	0.808000	0.34231	0.655000	0.94253	GAA	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.423	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	C	NM_015058		42144794	-1	no_errors	ENST00000379310	ensembl	human	known	70_37	missense	SNP	1.000	G
WASL	8976	genome.wustl.edu	37	7	123332690	123332690	+	Nonsense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:123332690G>C	ENST00000223023.4	-	9	1390	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	353	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGGTGCTGAGGAGGGAAG	0.662																																																	0													92.0	95.0	94.0					7																	123332690		2203	4300	6503	SO:0001587	stop_gained	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1058C>G	7.37:g.123332690G>C	ENSP00000223023:p.Ser353*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1JUI9|Q7Z746	Nonsense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.S353*	ENST00000223023.4	37	c.1058	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.542858	0.98348	.	.	ENSG00000106299	ENST00000223023	.	.	.	5.43	5.43	0.79202	.	0.378779	0.26967	N	0.021598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.947	19.2285	0.93827	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000223023:S353X	S	-	2	0	WASL	123119926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.730000	0.62015	2.532000	0.85374	0.650000	0.86243	TCA	WASL	-	NULL		0.662	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	G	NM_003941		123332690	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	nonsense	SNP	1.000	C
WBP2NL	164684	genome.wustl.edu	37	22	42423091	42423091	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr22:42423091G>A	ENST00000328823.9	+	6	867	c.836G>A	c.(835-837)gGa>gAa	p.G279E	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G205E	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	279	Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCACCTGCTGGATCAGGAGCC	0.587																																																	0													80.0	93.0	89.0					22																	42423091		2203	4300	6503	SO:0001583	missense	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.836G>A	22.37:g.42423091G>A	ENSP00000332983:p.Gly279Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	pfam_WW-domain-binding,pfam_GRAM	p.G279E	ENST00000328823.9	37	c.836	CCDS14029.1	22	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880991	0.51801	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.23147	2.24;1.92	3.93	-4.27	0.03744	.	.	.	.	.	T	0.12220	0.0297	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.30679	-0.9970	9	0.27082	T	0.32	.	1.6673	0.02805	0.4441:0.1381:0.2773:0.1406	.	279	Q6ICG8	WBP2L_HUMAN	E	279;205	ENSP00000332983:G279E;ENSP00000442447:G205E	ENSP00000332983:G279E	G	+	2	0	WBP2NL	40753037	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.027000	0.12371	-0.839000	0.04212	-0.482000	0.04802	GGA	WBP2NL	-	NULL		0.587	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1	G	NM_152613		42423091	+1	no_errors	ENST00000328823	ensembl	human	known	70_37	missense	SNP	0.000	A
WDR41	55255	genome.wustl.edu	37	5	76736643	76736643	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:76736643C>T	ENST00000296679.4	-	9	1252	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	WDR41_ENST00000414719.2_Missense_Mutation_p.E39K|WDR41_ENST00000507029.1_Missense_Mutation_p.E238K	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	293						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTACCTCTTCATCACATGTG	0.323																																																	0													91.0	91.0	91.0					5																	76736643		2203	4300	6503	SO:0001583	missense	55255			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.877G>A	5.37:g.76736643C>T	ENSP00000296679:p.Glu293Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	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.E293K	ENST00000296679.4	37	c.877	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.089529|5.089529	0.94149|0.94149	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791|ENST00000511630	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.04;1.34|.	5.8|5.8	5.8|5.8	0.92144|0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.047473|.	0.85682|.	D|.	0.000000|.	T|T	0.74726|0.74726	0.3754|0.3754	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999984|0.999984	D;D;P|.	0.67145|.	0.996;0.996;0.799|.	P;P;B|.	0.60415|.	0.874;0.874;0.214|.	T|T	0.70967|0.70967	-0.4728|-0.4728	10|5	0.72032|.	D|.	0.01|.	-14.6222|-14.6222	20.0549|20.0549	0.97648|0.97648	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;39;293|.	B4DT55;B4E2L4;Q9HAD4|.	.;.;WDR41_HUMAN|.	K|I	293;39;228;238;64;85|118	ENSP00000296679:E293K;ENSP00000392931:E39K;ENSP00000426499:E228K;ENSP00000424287:E238K;ENSP00000427291:E64K;ENSP00000423540:E85K|.	ENSP00000296679:E293K|.	E|M	-|-	1|3	0|0	WDR41|WDR41	76772399|76772399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.185000|3.185000	0.50934|0.50934	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GAA|ATG	WDR41	-	superfamily_WD40_repeat_dom		0.323	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2	C	NM_018268		76736643	-1	no_errors	ENST00000296679	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117528059	117528059	+	Missense_Mutation	SNP	A	A	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:117528059A>G	ENST00000254029.3	+	5	1263	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	WDR44_ENST00000371825.3_Missense_Mutation_p.S290G|WDR44_ENST00000371822.5_Missense_Mutation_p.S265G	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	290						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTAACCGCAAGCATGGCTTC	0.383																																																	0													131.0	118.0	122.0					X																	117528059		2203	4300	6503	SO:0001583	missense	54521			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.868A>G	X.37:g.117528059A>G	ENSP00000254029:p.Ser290Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	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.S290G	ENST00000254029.3	37	c.868	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.767|9.767	1.171536|1.171536	0.21704|0.21704	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.73575	.|-0.76;-0.16;-0.04	5.43|5.43	3.1|3.1	0.35709|0.35709	.|.	.|0.523957	.|0.22784	.|N	.|0.055693	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.30707|0.30707	-0.9969|-0.9969	5|10	.|0.35671	.|T	.|0.21	-17.609|-17.609	6.0467|6.0467	0.19764|0.19764	0.7199:0.143:0.137:0.0|0.7199:0.143:0.137:0.0	.|.	.|265;290;290	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	R|G	189|265;290;290	.|ENSP00000360887:S265G;ENSP00000254029:S290G;ENSP00000360890:S290G	.|ENSP00000254029:S290G	K|S	+|+	2|1	0|0	WDR44|WDR44	117412087|117412087	0.010000|0.010000	0.17322|0.17322	0.189000|0.189000	0.23252|0.23252	0.429000|0.429000	0.31625|0.31625	2.088000|2.088000	0.41663|0.41663	1.802000|1.802000	0.52723|0.52723	0.486000|0.486000	0.48141|0.48141	AAG|AGC	WDR44	-	NULL		0.383	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	A	NM_019045		117528059	+1	no_errors	ENST00000254029	ensembl	human	known	70_37	missense	SNP	0.002	G
WDR46	9277	genome.wustl.edu	37	6	33246901	33246901	+	3'UTR	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:33246901C>T	ENST00000374617.4	-	0	2341				B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46								poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						AAATCGCTTTCCTCTTTAATA	0.552																																																	0													127.0	126.0	126.0					6																	33246901		692	1591	2283	SO:0001624	3_prime_UTR_variant	9277			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.*152G>A	6.37:g.33246901C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	RNA	SNP	-	NULL	ENST00000374617.4	37	NULL	CCDS4772.1	6																																																																																			WDR46	-	-		0.552	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	C	NM_005452		33246901	-1	no_errors	ENST00000461951	ensembl	human	known	70_37	rna	SNP	0.072	T
WDR47	22911	genome.wustl.edu	37	1	109517212	109517212	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:109517212G>A	ENST00000369962.3	-	14	2785	c.2563C>T	c.(2563-2565)Cac>Tac	p.H855Y	WDR47_ENST00000361054.3_Missense_Mutation_p.H827Y|WDR47_ENST00000400794.3_Missense_Mutation_p.H863Y|WDR47_ENST00000369965.4_Missense_Mutation_p.H856Y|WDR47_ENST00000357672.3_Missense_Mutation_p.H827Y			O94967	WDR47_HUMAN	WD repeat domain 47	855					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCAAGTAGTGAGCTCCAGGG	0.403																																																	0													118.0	105.0	110.0					1																	109517212		2203	4300	6503	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2563C>T	1.37:g.109517212G>A	ENSP00000358979:p.His855Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H863Y	ENST00000369962.3	37	c.2587	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944982	0.34283	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.34329	0.022;0.136;0.449;0.022	B;B;B;B	0.41988	0.078;0.151;0.372;0.025	T	0.29882	-0.9997	10	0.06099	T	0.92	-1.4644	18.9158	0.92505	0.0:0.0:1.0:0.0	.	827;863;855;856	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	Y	863;855;827;856;827	ENSP00000383599:H863Y;ENSP00000358979:H855Y;ENSP00000354339:H827Y;ENSP00000358982:H856Y;ENSP00000350301:H827Y	ENSP00000350301:H827Y	H	-	1	0	WDR47	109318735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.450000	0.97607	2.444000	0.82710	0.655000	0.94253	CAC	WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	G	NM_014969		109517212	-1	no_errors	ENST00000400794	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR6	11180	genome.wustl.edu	37	3	49050363	49050363	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:49050363G>C	ENST00000608424.1	+	2	1435	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.E415Q|WDR6_ENST00000395474.3_Missense_Mutation_p.E496Q			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	466					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCTTGCCTAGAGATCTCAGC	0.597																																																	0													61.0	53.0	56.0					3																	49050363		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1396G>C	3.37:g.49050363G>C	ENSP00000477389:p.Glu466Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E496Q	ENST00000608424.1	37	c.1486		3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382060	0.61845	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.60920	0.15;2.26	5.49	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.173875	0.51477	D	0.000082	T	0.52597	0.1744	N	0.14661	0.345	0.32276	N	0.568203	D;D	0.67145	0.996;0.967	P;P	0.56788	0.806;0.522	T	0.56553	-0.7960	10	0.14252	T	0.57	-29.5106	15.753	0.78001	0.0:0.0:0.8626:0.1374	.	466;415	Q9NNW5;E9PDU5	WDR6_HUMAN;.	Q	496;415	ENSP00000378857:E496Q;ENSP00000413432:E415Q	ENSP00000378857:E496Q	E	+	1	0	WDR6	49025367	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.107000	0.57811	1.319000	0.45190	0.561000	0.74099	GAG	WDR6	-	superfamily_Quino_amine_DH_bsu		0.597	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49050363	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	1.000	C
WHSC1	7468	genome.wustl.edu	37	4	1961446	1961446	+	Silent	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr4:1961446C>G	ENST00000382895.3	+	19	3665	c.3234C>G	c.(3232-3234)gtC>gtG	p.V1078V	WHSC1_ENST00000508803.1_Silent_p.V1078V|WHSC1_ENST00000382891.5_Silent_p.V1078V|WHSC1_ENST00000382892.2_Silent_p.V1078V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.V426V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1078	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCCTGGTCGCCAAGAGGG	0.542			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													84.0	80.0	81.0					4																	1961446		2203	4300	6503	SO:0001819	synonymous_variant	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3234C>G	4.37:g.1961446C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.V1078	ENST00000382895.3	37	c.3234	CCDS33940.1	4																																																																																			WHSC1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	C	NM_133330		1961446	+1	no_errors	ENST00000382891	ensembl	human	known	70_37	silent	SNP	0.122	G
WIZ	58525	genome.wustl.edu	37	19	15551054	15551054	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:15551054C>T	ENST00000389282.4	-	3	820	c.607G>A	c.(607-609)Gag>Aag	p.E203K	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	203					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGGCCCCACTCGGACGGCTGG	0.652																																																	0																																										SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.607G>A	19.37:g.15551054C>T	ENSP00000373933:p.Glu203Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E203K	ENST00000389282.4	37	c.607		19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341017	0.41498	.	.	ENSG00000011451	ENST00000389282	T	0.04156	3.69	5.09	5.09	0.68999	.	0.687710	0.12827	N	0.435950	T	0.15478	0.0373	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00138	-1.2003	7	0.62326	D	0.03	-13.7235	14.3677	0.66817	0.0:1.0:0.0:0.0	.	.	.	.	K	203	ENSP00000373933:E203K	ENSP00000373933:E203K	E	-	1	0	WIZ	15412054	0.700000	0.27796	0.954000	0.39281	0.300000	0.27592	2.766000	0.47629	2.526000	0.85167	0.561000	0.74099	GAG	WIZ	-	NULL		0.652	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15551054	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.979	T
WWC1	23286	genome.wustl.edu	37	5	167850938	167850938	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr5:167850938G>A	ENST00000265293.4	+	11	2177	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	WWC1_ENST00000521089.1_Missense_Mutation_p.D559N	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	559					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)		CCTGGCTGGTGATGCCTTCCT	0.592																																																	0													73.0	64.0	67.0					5																	167850938		2203	4300	6503	SO:0001583	missense	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.1675G>A	5.37:g.167850938G>A	ENSP00000265293:p.Asp559Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.D559N	ENST00000265293.4	37	c.1675	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	17.79	3.477057	0.63849	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.343107	0.30365	N	0.009796	T	0.51770	0.1694	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;P	0.81914	0.995;0.957;0.957;0.864	T	0.41945	-0.9480	10	0.27082	T	0.32	.	18.2752	0.90080	0.0:0.0:1.0:0.0	.	559;465;465;559	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	N	559	ENSP00000265293:D559N;ENSP00000427772:D559N	ENSP00000265293:D559N	D	+	1	0	WWC1	167783516	1.000000	0.71417	0.953000	0.39169	0.072000	0.16883	9.230000	0.95299	2.320000	0.78422	0.655000	0.94253	GAT	WWC1	-	NULL		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	G	NM_015238		167850938	+1	no_errors	ENST00000265293	ensembl	human	known	70_37	missense	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168098385	168098385	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr2:168098385G>A	ENST00000409728.1	+	9	1329	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	XIRP2_ENST00000409195.1_Missense_Mutation_p.D381N|XIRP2_ENST00000409605.1_Missense_Mutation_p.D159N|XIRP2_ENST00000420519.1_Missense_Mutation_p.D414N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D381N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D381N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D381N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D159N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	206					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTTTATTCTGACAAAGAGAT	0.368																																																	0													122.0	116.0	118.0					2																	168098385		1833	4078	5911	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1240G>A	2.37:g.168098385G>A	ENSP00000386619:p.Asp414Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.D381N	ENST00000409728.1	37	c.1141	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943917	0.73672	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;4.03;-1.19;-1.19;4.03;4.07;-1.19	5.27	4.37	0.52481	.	0.292782	0.36815	N	0.002394	D	0.85039	0.5606	M	0.62723	1.935	0.30272	N	0.792178	P;D;D;P;P	0.71674	0.917;0.998;0.998;0.897;0.873	P;D;D;P;P	0.70487	0.529;0.957;0.969;0.675;0.599	T	0.83043	-0.0156	10	0.41790	T	0.15	-6.5178	14.4005	0.67041	0.0:0.1476:0.8524:0.0	.	206;381;414;206;159	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	N	381;414;381;381;414;381;159;159	ENSP00000386454:D381N;ENSP00000386619:D414N;ENSP00000386840:D381N;ENSP00000386724:D381N;ENSP00000415541:D414N;ENSP00000295237:D381N;ENSP00000387255:D159N;ENSP00000386981:D159N	ENSP00000295237:D381N	D	+	1	0	XIRP2	167806631	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	2.723000	0.47277	1.314000	0.45095	0.591000	0.81541	GAC	XIRP2	-	NULL		0.368	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	G	NM_152381		168098385	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	1.000	A
XIST	7503	genome.wustl.edu	37	X	73069063	73069063	+	lincRNA	SNP	A	A	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:73069063A>G	ENST00000429829.1	-	0	3525					NR_001564.2				X inactive specific transcript (non-protein coding)																		GATTCTCCAGAAGCACAGCAA	0.418																																																	0													42.0	41.0	41.0					X																	73069063		875	1990	2865			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069063A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.418	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	A	NR_001564		73069063	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.004	G
ZBTB37	84614	genome.wustl.edu	37	1	173839814	173839814	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:173839814G>A	ENST00000367701.5	+	2	642	c.451G>A	c.(451-453)Gag>Aag	p.E151K	ZBTB37_ENST00000367702.1_Missense_Mutation_p.E151K|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E151K|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E151K|ZBTB37_ENST00000367704.1_Missense_Mutation_p.E151K|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GAGACCTCCAGAGTCTCACAG	0.468																																																	0													54.0	55.0	54.0					1																	173839814		2203	4300	6503	SO:0001583	missense	84614			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.451G>A	1.37:g.173839814G>A	ENSP00000356674:p.Glu151Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E151K	ENST00000367701.5	37	c.451	CCDS44278.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574014	0.65765	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.75704	-0.95;2.61;-0.96;-0.96;2.61	5.7	5.7	0.88788	.	0.271361	0.42420	D	0.000720	T	0.45994	0.1370	N	0.24115	0.695	0.58432	D	0.99999	B;B	0.16166	0.016;0.016	B;B	0.15484	0.011;0.013	T	0.52881	-0.8516	10	0.07030	T	0.85	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	151;151	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	K	151;151;151;151;59;151	ENSP00000356677:E151K;ENSP00000415293:E151K;ENSP00000409408:E151K;ENSP00000356675:E151K;ENSP00000356674:E151K	ENSP00000356674:E151K	E	+	1	0	ZBTB37	172106437	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	5.079000	0.64431	2.687000	0.91594	0.563000	0.77884	GAG	ZBTB37	-	NULL		0.468	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB37	HGNC	protein_coding	OTTHUMT00000090729.2	G	NM_032522		173839814	+1	no_errors	ENST00000367701	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB41	360023	genome.wustl.edu	37	1	197128956	197128956	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:197128956G>A	ENST00000367405.4	-	10	2331	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	755					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(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTACTGAGAGGATCATCAGGA	0.388																																																	0													189.0	182.0	184.0					1																	197128956		2203	4299	6502	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2263C>T	1.37:g.197128956G>A	ENSP00000356375:p.Pro755Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P755S	ENST00000367405.4	37	c.2263	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432206	0.25813	.	.	ENSG00000177888	ENST00000367405	T	0.06142	3.34	5.97	-0.762	0.11034	.	0.605816	0.13452	N	0.386833	T	0.02848	0.0085	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41088	-0.9528	10	0.42905	T	0.14	.	1.6276	0.02726	0.359:0.2431:0.2846:0.1132	.	755	Q5SVQ8	ZBT41_HUMAN	S	755	ENSP00000356375:P755S	ENSP00000356375:P755S	P	-	1	0	ZBTB41	195395579	0.388000	0.25197	0.951000	0.38953	0.993000	0.82548	0.286000	0.18902	0.118000	0.18165	-0.137000	0.14449	CCT	ZBTB41	-	NULL		0.388	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	G	NM_194314		197128956	-1	no_errors	ENST00000367405	ensembl	human	known	70_37	missense	SNP	0.082	A
ZC3H12B	340554	genome.wustl.edu	37	X	64722153	64722153	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:64722153G>A	ENST00000338957.4	+	5	1642	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	ZC3H12B_ENST00000423889.3_Silent_p.G514G	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	525							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGCCATGGGACCCCTATTA	0.502																																																	0													96.0	89.0	91.0					X																	64722153		1941	4126	6067	SO:0001819	synonymous_variant	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1575G>A	X.37:g.64722153G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.G525	ENST00000338957.4	37	c.1575	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL		0.502	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	G	XM_293334		64722153	+1	no_errors	ENST00000338957	ensembl	human	known	70_37	silent	SNP	1.000	A
ZFP90	146198	genome.wustl.edu	37	16	68597358	68597358	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:68597358G>T	ENST00000570495.1	+	5	960	c.668G>T	c.(667-669)aGa>aTa	p.R223I	ZFP90_ENST00000563169.2_Missense_Mutation_p.R223I|ZFP90_ENST00000398253.2_Missense_Mutation_p.R223I			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	223					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTTATTCATAGATCATCGCTT	0.338																																																	0													64.0	65.0	65.0					16																	68597358		1896	4113	6009	SO:0001583	missense	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.668G>T	16.37:g.68597358G>T	ENSP00000460547:p.Arg223Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU00|B3KVE7|Q49AD1|Q96MQ6	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.R223I	ENST00000570495.1	37	c.668	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202934	0.38905	.	.	ENSG00000184939	ENST00000398253	T	0.53640	0.61	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51753	0.1693	L	0.31294	0.92	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.45264	-0.9273	9	0.33141	T	0.24	-16.1086	11.6036	0.51017	0.0797:0.0:0.9203:0.0	.	223	Q8TF47	ZFP90_HUMAN	I	223	ENSP00000381304:R223I	ENSP00000381304:R223I	R	+	2	0	ZFP90	67154859	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	0.306000	0.19279	2.941000	0.99782	0.655000	0.94253	AGA	ZFP90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	G	XM_085375		68597358	+1	no_errors	ENST00000398253	ensembl	human	known	70_37	missense	SNP	0.005	T
ZFHX3	463	genome.wustl.edu	37	16	72845491	72845491	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:72845491C>T	ENST00000268489.5	-	7	4521	c.3849G>A	c.(3847-3849)gaG>gaA	p.E1283E	ZFHX3_ENST00000397992.5_Silent_p.E369E|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1283					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TAATGAGCTTCTCCACGCAGT	0.557																																																	0													54.0	49.0	50.0					16																	72845491		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3849G>A	16.37:g.72845491C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Silent	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.E1283	ENST00000268489.5	37	c.3849	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72845491	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	T
ZC3H18	124245	genome.wustl.edu	37	16	88697525	88697525	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88697525C>T	ENST00000301011.5	+	18	2880	c.2680C>T	c.(2680-2682)Ccc>Tcc	p.P894S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P918S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	894						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCTGTCACCCCAGTCCAA	0.662																																					Ovarian(121;375 2276 20373 38669)												0													59.0	60.0	59.0					16																	88697525		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2680C>T	16.37:g.88697525C>T	ENSP00000301011:p.Pro894Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.P894S	ENST00000301011.5	37	c.2680	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190500	0.58017	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.38887	1.11;1.13	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.57894	-0.7732	10	0.37606	T	0.19	-28.3394	19.639	0.95749	0.0:1.0:0.0:0.0	.	918;894	E7ERS3;Q86VM9	.;ZCH18_HUMAN	S	894;918	ENSP00000301011:P894S;ENSP00000416951:P918S	ENSP00000301011:P894S	P	+	1	0	ZC3H18	87225026	1.000000	0.71417	0.457000	0.27056	0.011000	0.07611	7.232000	0.78116	2.644000	0.89710	0.561000	0.74099	CCC	ZC3H18	-	NULL		0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	C	NM_144604		88697525	+1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	0.999	T
ZIC3	7547	genome.wustl.edu	37	X	136649738	136649738	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136649738C>T	ENST00000287538.5	+	1	1438	c.888C>T	c.(886-888)gtC>gtT	p.V296V	ZIC3_ENST00000370606.3_Silent_p.V296V	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	296					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACAACCACGTCTGCTACTGGG	0.602																																																	0													55.0	61.0	59.0					X																	136649738		2203	4300	6503	SO:0001819	synonymous_variant	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.888C>T	X.37:g.136649738C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V296	ENST00000287538.5	37	c.888	CCDS14663.1	X																																																																																			ZIC3	-	smart_Znf_C2H2-like		0.602	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649738	+1	no_errors	ENST00000287538	ensembl	human	known	70_37	silent	SNP	1.000	T
ZMAT1	84460	genome.wustl.edu	37	X	101139058	101139058	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:101139058C>T	ENST00000372782.3	-	7	1388	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.E276E|ZMAT1_ENST00000540921.1_Silent_p.E447E	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	447						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTGGAAAGTCTCACATGGGA	0.413																																																	0													170.0	158.0	162.0					X																	101139058		2203	4300	6503	SO:0001819	synonymous_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1341G>A	X.37:g.101139058C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E447	ENST00000372782.3	37	c.1341	CCDS35348.1	X																																																																																			ZMAT1	-	NULL		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101139058	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	silent	SNP	0.516	T
ZIC3	7547	genome.wustl.edu	37	X	136649777	136649777	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chrX:136649777C>T	ENST00000287538.5	+	1	1477	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ZIC3_ENST00000370606.3_Silent_p.F309F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	309	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTTTCAAGGCGAAGT	0.607																																																	0													69.0	76.0	74.0					X																	136649777		2203	4300	6503	SO:0001819	synonymous_variant	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.927C>T	X.37:g.136649777C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2CNW4|Q14DE5|Q5JY75	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F309	ENST00000287538.5	37	c.927	CCDS14663.1	X																																																																																			ZIC3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649777	+1	no_errors	ENST00000287538	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF18	7566	genome.wustl.edu	37	17	11895970	11895970	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr17:11895970C>T	ENST00000322748.3	-	4	781	c.177G>A	c.(175-177)ttG>ttA	p.L59L	ZNF18_ENST00000454073.3_Silent_p.L59L|ZNF18_ENST00000580306.2_Silent_p.L59L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GAAGTTGCTTCAAGGTCTCAT	0.537																																																	0													91.0	86.0	88.0					17																	11895970		2203	4300	6503	SO:0001819	synonymous_variant	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.177G>A	17.37:g.11895970C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QHQ3|Q8IYC4|Q8NAH6	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L59	ENST00000322748.3	37	c.177	CCDS32568.1	17																																																																																			ZNF18	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.537	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	C	XM_085596		11895970	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	silent	SNP	0.975	T
ZNF180	7733	genome.wustl.edu	37	19	44982160	44982160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:44982160G>A	ENST00000221327.4	-	5	819	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q155*|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q153*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q180K(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTTTCCTTTGAGTGAATGCC	0.408																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												1	Substitution - Missense(1)	lung(1)											164.0	156.0	159.0					19																	44982160		2203	4300	6503	SO:0001587	stop_gained	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.538C>T	19.37:g.44982160G>A	ENSP00000221327:p.Gln180*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_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.Q180*	ENST00000221327.4	37	c.538	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.171767	0.94807	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	5.16	2.96	0.34315	.	0.609459	0.13689	N	0.369673	.	.	.	.	.	.	0.21220	N	0.99976	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-2.0041	8.5919	0.33693	0.0876:0.1577:0.7547:0.0	.	.	.	.	X	180;155	.	ENSP00000221327:Q180X	Q	-	1	0	ZNF180	49674000	0.001000	0.12720	0.020000	0.16555	0.971000	0.66376	0.855000	0.27805	2.683000	0.91414	0.655000	0.94253	CAA	ZNF180	-	NULL		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	G	NM_013256		44982160	-1	no_errors	ENST00000221327	ensembl	human	known	70_37	nonsense	SNP	0.037	A
ZNF197	10168	genome.wustl.edu	37	3	44685487	44685487	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:44685487G>A	ENST00000396058.1	+	5	3032	c.2865G>A	c.(2863-2865)gaG>gaA	p.E955E	ZNF197_ENST00000344387.4_Silent_p.E955E|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	955					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ACACAGGGGAGAAACCCTATG	0.388																																																	0													64.0	70.0	68.0					3																	44685487		2203	4300	6503	SO:0001819	synonymous_variant	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2865G>A	3.37:g.44685487G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH8|Q86VG0	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E955	ENST00000396058.1	37	c.2865	CCDS2717.1	3																																																																																			ZNF197	-	pfscan_Znf_C2H2		0.388	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44685487	+1	no_errors	ENST00000344387	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF274	10782	genome.wustl.edu	37	19	58718433	58718433	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58718433G>A	ENST00000326804.4	+	6	1060	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.E96K|ZNF274_ENST00000345813.3_Missense_Mutation_p.E169K	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	202	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GCAGATCCTGGAGCTGCTGGT	0.607																																																	0													24.0	26.0	26.0					19																	58718433		2203	4300	6503	SO:0001583	missense	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.601G>A	19.37:g.58718433G>A	ENSP00000321209:p.Glu201Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E201K	ENST00000326804.4	37	c.601		19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458207	0.84317	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.10192	2.9;2.9;2.9	4.46	4.46	0.54185	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.41294	D	0.000917	T	0.31104	0.0786	.	.	.	0.31570	N	0.656391	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.994;0.996	T	0.23261	-1.0193	9	0.87932	D	0	-35.3659	13.3344	0.60509	0.0:0.0:1.0:0.0	.	97;170;202	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	K	201;169;96	ENSP00000321209:E201K;ENSP00000321187:E169K;ENSP00000409872:E96K	ENSP00000321209:E201K	E	+	1	0	ZNF274	63410245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.569000	0.45973	2.422000	0.82143	0.655000	0.94253	GAG	ZNF274	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.607	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		G	NM_133502		58718433	+1	no_errors	ENST00000326804	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF292	23036	genome.wustl.edu	37	6	87964650	87964650	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr6:87964650G>A	ENST00000369577.3	+	8	1346	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V430I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	435						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTGTTACTTGTATTGAAAAC	0.388																																																	0													71.0	66.0	68.0					6																	87964650		1845	4087	5932	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1303G>A	6.37:g.87964650G>A	ENSP00000358590:p.Val435Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V435I	ENST00000369577.3	37	c.1303	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006015	0.74932	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.41400	1.0;1.0	6.06	6.06	0.98353	.	0.055189	0.64402	D	0.000001	T	0.46014	0.1371	N	0.24115	0.695	0.49798	D	0.999825	D	0.76494	0.999	D	0.68765	0.96	T	0.47837	-0.9086	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	435	O60281	ZN292_HUMAN	I	435;430	ENSP00000358590:V435I;ENSP00000342847:V430I	ENSP00000342847:V430I	V	+	1	0	ZNF292	88021369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	2.880000	0.98712	0.650000	0.86243	GTA	ZNF292	-	NULL		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87964650	+1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB21	49854	genome.wustl.edu	37	21	43412056	43412056	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:43412056C>G	ENST00000310826.5	-	3	2332	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717Q|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717Q	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	717					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCCTTGTTTTCTACTGGACTT	0.478																																																	0													153.0	178.0	169.0					21																	43412056		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2149G>C	21.37:g.43412056C>G	ENSP00000308759:p.Glu717Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E717Q	ENST00000310826.5	37	c.2149	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	7.722	0.697381	0.15106	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.07567	3.18;3.18;3.18	5.38	4.48	0.54585	.	0.949026	0.08738	N	0.900965	T	0.09158	0.0226	L	0.34521	1.04	0.09310	N	1	B	0.26445	0.149	B	0.25884	0.064	T	0.39542	-0.9609	10	0.15066	T	0.55	-6.3121	15.8962	0.79336	0.0:0.8642:0.1358:0.0	.	717	Q9ULJ3	ZN295_HUMAN	Q	717	ENSP00000308759:E717Q;ENSP00000381512:E717Q;ENSP00000381523:E717Q	ENSP00000308759:E717Q	E	-	1	0	ZNF295	42285125	0.206000	0.23470	0.001000	0.08648	0.975000	0.68041	3.287000	0.51732	1.237000	0.43756	0.551000	0.68910	GAA	ZNF295	-	NULL		0.478	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43412056	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	0.063	G
ZBTB21	49854	genome.wustl.edu	37	21	43412124	43412124	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr21:43412124C>G	ENST00000310826.5	-	3	2264	c.2081G>C	c.(2080-2082)gGa>gCa	p.G694A	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.G694A|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.G694A	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	694					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGGTTTTTCTCCTGGATGCAT	0.428																																																	0													122.0	144.0	137.0					21																	43412124		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2081G>C	21.37:g.43412124C>G	ENSP00000308759:p.Gly694Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G694A	ENST00000310826.5	37	c.2081	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212597	0.39102	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.64438	-0.1;-0.1;-0.1	5.53	5.53	0.82687	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151390	0.42821	D	0.000650	T	0.56187	0.1968	L	0.41236	1.265	0.44447	D	0.997378	P	0.43750	0.816	B	0.39185	0.293	T	0.56450	-0.7977	10	0.35671	T	0.21	-14.7549	19.466	0.94939	0.0:1.0:0.0:0.0	.	694	Q9ULJ3	ZN295_HUMAN	A	694	ENSP00000308759:G694A;ENSP00000381512:G694A;ENSP00000381523:G694A	ENSP00000308759:G694A	G	-	2	0	ZNF295	42285193	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	2.988000	0.49386	2.607000	0.88179	0.655000	0.94253	GGA	ZNF295	-	pfscan_Znf_C2H2		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	C	NM_020727		43412124	-1	no_errors	ENST00000310826	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF302	55900	genome.wustl.edu	37	19	35175249	35175249	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:35175249G>C	ENST00000446502.2	+	6	647	c.439G>C	c.(439-441)Gta>Cta	p.V147L	ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.V103L|ZNF302_ENST00000505242.1_Missense_Mutation_p.V103L|ZNF302_ENST00000423823.2_Missense_Mutation_p.V103L			Q9NR11	ZN302_HUMAN	zinc finger protein 302	182					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAAAAAGTTGTAAAACAAAG	0.308																																																	0													39.0	42.0	41.0					19																	35175249		2092	4238	6330	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.439G>C	19.37:g.35175249G>C	ENSP00000396379:p.Val147Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658J3|Q9BZD8|Q9P0J4	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.V103L	ENST00000446502.2	37	c.307		19	.	.	.	.	.	.	.	.	.	.	G	2.201	-0.383082	0.04966	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.04156	3.7;3.7;6.17;3.7;3.69	0.967	-0.252	0.12999	.	.	.	.	.	T	0.03011	0.0089	L	0.29908	0.895	0.09310	N	1	B;B	0.18610	0.003;0.029	B;B	0.17979	0.006;0.02	T	0.48822	-0.9001	9	0.13853	T	0.58	.	2.8797	0.05644	0.5102:0.0:0.4898:0.0	.	147;103	E7EVR1;Q9NR11-2	.;.	L	103;103;103;103;147	ENSP00000391067:V103L;ENSP00000421028:V103L;ENSP00000421696:V103L;ENSP00000405219:V103L;ENSP00000396379:V147L	ENSP00000405219:V103L	V	+	1	0	ZNF302	39867089	0.000000	0.05858	0.012000	0.15200	0.021000	0.10359	-0.278000	0.08490	-0.095000	0.12351	0.467000	0.42956	GTA	ZNF302	-	NULL		0.308	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	G			35175249	+1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.007	C
ZNF429	353088	genome.wustl.edu	37	19	21712561	21712561	+	Silent	SNP	G	G	A	rs368773099		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21712561G>A	ENST00000358491.4	+	2	313	c.105G>A	c.(103-105)gaG>gaA	p.E35E	ZNF429_ENST00000597078.1_Silent_p.E35E|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGATGTTAGAGAACTACAGAA	0.388																																																	0								G		1,4403		0,1,2201	108.0	120.0	116.0		105	0.9	0.7	19		116	0,8600		0,0,4300	no	coding-synonymous	ZNF429	NM_001001415.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		35/675	21712561	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.105G>A	19.37:g.21712561G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLV7|Q9BZE6	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E35	ENST00000358491.4	37	c.105	CCDS42537.1	19																																																																																			ZNF429	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	G	NM_001001415		21712561	+1	no_errors	ENST00000597078	ensembl	human	putative	70_37	silent	SNP	0.387	A
ZNF429	353088	genome.wustl.edu	37	19	21720389	21720389	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21720389G>A	ENST00000358491.4	+	4	1742	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTACAAATGTGAAGAATGTGG	0.373																																																	0													36.0	41.0	39.0					19																	21720389		2124	4261	6385	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1534G>A	19.37:g.21720389G>A	ENSP00000351280:p.Glu512Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLV7|Q9BZE6	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.E512K	ENST00000358491.4	37	c.1534	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	4.161	0.028260	0.08054	.	.	ENSG00000197013	ENST00000358491	T	0.06608	3.28	0.81	-0.534	0.11883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.29731	-1.0002	9	0.06757	T	0.87	.	0.1503	0.00092	0.2421:0.2506:0.2552:0.2521	.	512	Q86V71	ZN429_HUMAN	K	512	ENSP00000351280:E512K	ENSP00000351280:E512K	E	+	1	0	ZNF429	21512229	0.000000	0.05858	0.772000	0.31596	0.773000	0.43773	-2.944000	0.00681	0.181000	0.19994	0.184000	0.17185	GAA	ZNF429	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	G	NM_001001415		21720389	+1	no_errors	ENST00000358491	ensembl	human	novel	70_37	missense	SNP	0.019	A
ZNF417	147687	genome.wustl.edu	37	19	58420610	58420610	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58420610G>C	ENST00000312026.5	-	3	1200	c.1036C>G	c.(1036-1038)Cac>Gac	p.H346D	ZNF417_ENST00000536263.1_Missense_Mutation_p.H147D|ZNF417_ENST00000595559.1_Missense_Mutation_p.H345D|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTCCAGTGTGACCTTGCTGA	0.448																																																	0													139.0	119.0	126.0					19																	58420610		2203	4297	6500	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1036C>G	19.37:g.58420610G>C	ENSP00000311319:p.His346Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEU1	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.H346D	ENST00000312026.5	37	c.1036	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	16.18	3.049347	0.55218	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.67698	-0.28;-0.28	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84781	0.5548	H	0.94698	3.57	0.36743	D	0.882346	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.985	D	0.89561	0.3806	9	0.87932	D	0	.	11.5471	0.50700	0.0:0.0:1.0:0.0	.	346;346	F5H0M9;Q8TAU3	.;ZN417_HUMAN	D	346;147	ENSP00000311319:H346D;ENSP00000442760:H147D	ENSP00000311319:H346D	H	-	1	0	ZNF417	63112422	1.000000	0.71417	0.222000	0.23844	0.065000	0.16274	6.549000	0.73900	1.243000	0.43853	0.306000	0.20318	CAC	ZNF417	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	G	NM_152475		58420610	-1	no_errors	ENST00000312026	ensembl	human	known	70_37	missense	SNP	0.997	C
ZSCAN32	54925	genome.wustl.edu	37	16	3434520	3434520	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:3434520G>A	ENST00000396852.4	-	6	1480	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	ZSCAN32_ENST00000573830.1_Silent_p.F102F|ZSCAN32_ENST00000396846.3_Silent_p.F391F|ZSCAN32_ENST00000439568.2_Silent_p.F102F|ZSCAN32_ENST00000422427.2_Silent_p.F179F|ZSCAN32_ENST00000574940.1_Silent_p.F391F|ZSCAN32_ENST00000304926.3_Silent_p.F179F|NAA60_ENST00000576906.1_3'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	391					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CAGGATTCCTGAAGTCCTTTT	0.512																																																	0													125.0	114.0	117.0					16																	3434520		2197	4300	6497	SO:0001819	synonymous_variant	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1173C>T	16.37:g.3434520G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F391	ENST00000396852.4	37	c.1173		16																																																																																			ZNF434	-	NULL		0.512	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	G	NM_017810		3434520	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF469	84627	genome.wustl.edu	37	16	88499969	88499969	+	Missense_Mutation	SNP	G	G	C	rs273585622		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:88499969G>C	ENST00000437464.1	+	2	6007	c.6007G>C	c.(6007-6009)Gag>Cag	p.E2003Q	ZNF469_ENST00000565624.1_Missense_Mutation_p.E2031Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2003					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CGGCCCCACCGAGGGTGCAGT	0.642																																																	0													35.0	48.0	44.0					16																	88499969		692	1590	2282	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.6007G>C	16.37:g.88499969G>C	ENSP00000402343:p.Glu2003Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E2003Q	ENST00000437464.1	37	c.6007	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	g	7.305	0.613786	0.14066	.	.	ENSG00000225614	ENST00000437464	T	0.05996	3.36	4.88	-5.66	0.02451	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.41034	-0.9531	9	0.40728	T	0.16	.	13.8054	0.63227	0.6497:0.0:0.3503:0.0	.	2003	Q96JG9	ZN469_HUMAN	Q	2003	ENSP00000402343:E2003Q	ENSP00000402343:E2003Q	E	+	1	0	ZNF469	87027470	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.451000	0.01933	-2.226000	0.00293	GAG	ZNF469	-	NULL		0.642	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		G	NG_012236		88499969	+1	no_errors	ENST00000437464	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF486	90649	genome.wustl.edu	37	19	20308812	20308812	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:20308812G>A	ENST00000335117.8	+	4	1350	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATACTGGAGAGAAACCTTACA	0.373																																																	0													26.0	28.0	27.0					19																	20308812		2197	4291	6488	SO:0001819	synonymous_variant	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1293G>A	19.37:g.20308812G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E431	ENST00000335117.8	37	c.1293	CCDS46029.1	19																																																																																			ZNF486	-	pfscan_Znf_C2H2		0.373	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	G	NM_052852		20308812	+1	no_errors	ENST00000335117	ensembl	human	known	70_37	silent	SNP	0.997	A
ZNF471	57573	genome.wustl.edu	37	19	57036445	57036445	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:57036445C>G	ENST00000308031.5	+	5	1142	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	ZNF471_ENST00000591537.1_Missense_Mutation_p.I196M|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGCTCGACATCAGAGATGTCA	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													44.0	48.0	47.0					19																	57036445		2203	4300	6503	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1009C>G	19.37:g.57036445C>G	ENSP00000309161:p.Gln337Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	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.Q337E	ENST00000308031.5	37	c.1009	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742255	0.30865	.	.	ENSG00000196263	ENST00000308031	T	0.35605	1.3	3.72	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.16166	0.38	0.19575	N	0.999962	P	0.37083	0.581	B	0.37650	0.255	T	0.11966	-1.0566	9	0.59425	D	0.04	.	9.7989	0.40753	0.369:0.631:0.0:0.0	.	337	Q9BX82	ZN471_HUMAN	E	337	ENSP00000309161:Q337E	ENSP00000309161:Q337E	Q	+	1	0	ZNF471	61728257	0.000000	0.05858	0.962000	0.40283	0.980000	0.70556	0.026000	0.13599	0.700000	0.31782	0.462000	0.41574	CAG	ZNF471	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	C	NM_020813		57036445	+1	no_errors	ENST00000308031	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF510	22869	genome.wustl.edu	37	9	99522049	99522049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr9:99522049G>A	ENST00000375231.1	-	6	1713	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.Q355*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	355					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)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACAGCTGTTTGAGGATCAGTG	0.343																																																	0													147.0	137.0	141.0					9																	99522049		2203	4300	6503	SO:0001587	stop_gained	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1063C>T	9.37:g.99522049G>A	ENSP00000364379:p.Gln355*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZP5	Nonsense_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.Q355*	ENST00000375231.1	37	c.1063	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	g	39	7.356794	0.98235	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.6785	0.40056	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000223428:Q355X	Q	-	1	0	ZNF510	98561870	0.000000	0.05858	0.057000	0.19452	0.016000	0.09150	-0.154000	0.10130	1.974000	0.57490	0.561000	0.74099	CAA	ZNF510	-	NULL		0.343	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	G	NM_014930		99522049	-1	no_errors	ENST00000223428	ensembl	human	known	70_37	nonsense	SNP	0.091	A
ZNF518A	9849	genome.wustl.edu	37	10	97922159	97922159	+	RNA	SNP	G	G	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:97922159G>T	ENST00000534948.1	+	0	6935							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAAGATGTGAAACAGTTTA	0.333																																																	0																																												9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97922159G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.333	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		G	NM_014803		97922159	+1	no_errors	ENST00000534948	ensembl	human	known	70_37	rna	SNP	1.000	T
ZNF519	162655	genome.wustl.edu	37	18	14105020	14105020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14105020G>A	ENST00000590202.1	-	3	1671	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	507					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAATTCTCTGATGTTGAGTA	0.383																																																	0													78.0	82.0	80.0					18																	14105020		2203	4300	6503	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1519C>T	18.37:g.14105020G>A	ENSP00000464872:p.Gln507*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_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.Q507*	ENST00000590202.1	37	c.1519	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958518	0.92726	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8012	0.08758	0.0:1.0E-4:0.5761:0.4239	.	.	.	.	X	507	.	ENSP00000307908:Q507X	Q	-	1	0	ZNF519	14095020	0.000000	0.05858	0.739000	0.30968	0.510000	0.34073	-0.713000	0.05007	0.661000	0.30985	0.089000	0.15464	CAG	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105020	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.888	A
ZNF519	162655	genome.wustl.edu	37	18	14105110	14105110	+	Nonsense_Mutation	SNP	G	G	A	rs147229950	byFrequency	TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr18:14105110G>A	ENST00000590202.1	-	3	1581	c.1429C>T	c.(1429-1431)Caa>Taa	p.Q477*	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	477					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCTGATGTTGAGTAAGGTGT	0.418																																																	0													60.0	62.0	61.0					18																	14105110		2203	4298	6501	SO:0001587	stop_gained	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1429C>T	18.37:g.14105110G>A	ENSP00000464872:p.Gln477*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_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.Q477*	ENST00000590202.1	37	c.1429	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438914	0.63067	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	0.50171	D	0.999851	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5962	0.04855	0.0:0.3141:0.3727:0.3132	.	.	.	.	X	477	.	ENSP00000307908:Q477X	Q	-	1	0	ZNF519	14095110	0.000000	0.05858	0.031000	0.17742	0.251000	0.25915	-4.328000	0.00252	-0.338000	0.08413	0.089000	0.15464	CAA	ZNF519	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	G	NM_145287		14105110	-1	no_errors	ENST00000590202	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ZNF567	163081	genome.wustl.edu	37	19	37211354	37211354	+	Silent	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:37211354C>T	ENST00000536254.2	+	6	1950	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	ZNF567_ENST00000588311.1_Silent_p.L545L|ZNF567_ENST00000360729.4_Silent_p.L545L|ZNF567_ENST00000585696.1_Silent_p.L545L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.L545L			Q8N184	ZN567_HUMAN	zinc finger protein 567	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATATCTCATTCATCATC	0.413																																																	0													61.0	64.0	63.0					19																	37211354		2203	4300	6503	SO:0001819	synonymous_variant	163081			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1728C>T	19.37:g.37211354C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX49|Q6N044	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L576	ENST00000536254.2	37	c.1728		19																																																																																			ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	C	NM_152603		37211354	+1	no_errors	ENST00000536254	ensembl	human	known	70_37	silent	SNP	0.289	T
ZNF527	84503	genome.wustl.edu	37	19	37862022	37862022	+	5'Flank	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:37862022C>T	ENST00000436120.2	+	0	0				ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_5'Flank|ZNF527_ENST00000483919.1_5'Flank	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527						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)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCTCAGAGTCCTGCATGCCT	0.682																																																	0																																										SO:0001631	upstream_gene_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173		19.37:g.37862022C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVL5	RNA	SNP	-	NULL	ENST00000436120.2	37	NULL	CCDS42559.1	19																																																																																			ZNF527	-	-		0.682	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	C	NM_032453		37862022	+1	no_errors	ENST00000589615	ensembl	human	known	70_37	rna	SNP	0.021	T
ZNF593	51042	genome.wustl.edu	37	1	26496564	26496564	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:26496564G>C	ENST00000374266.5	+	1	203	c.90G>C	c.(88-90)gaG>gaC	p.E30D	RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000270812.5_Missense_Mutation_p.E30D	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	30					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGGATGAGATTCACCGCG	0.701											OREG0013262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7.0	9.0	9.0					1																	26496564		2121	4174	6295	SO:0001583	missense	51042			D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.90G>C	1.37:g.26496564G>C	ENSP00000363384:p.Glu30Asp	Somatic	787	WXS	Illumina HiSeq	Phase_IV	B2R4S0|Q5T2H7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,pfscan_Znf_C2H2	p.E30D	ENST00000374266.5	37	c.90	CCDS275.2	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689479	0.88735	.	.	ENSG00000142684	ENST00000374266;ENST00000270812	T;T	0.47177	0.89;0.85	5.63	2.74	0.32292	.	0.050457	0.85682	D	0.000000	T	0.53594	0.1806	M	0.76328	2.33	0.23260	N	0.99803	D	0.61080	0.989	P	0.49752	0.621	T	0.51276	-0.8726	10	0.72032	D	0.01	-6.4354	10.0859	0.42417	0.2115:0.0:0.7885:0.0	.	30	O00488	ZN593_HUMAN	D	30	ENSP00000363384:E30D;ENSP00000270812:E30D	ENSP00000270812:E30D	E	+	3	2	ZNF593	26369151	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.337000	0.43947	0.751000	0.32900	-0.122000	0.15005	GAG	ZNF593	-	NULL		0.701	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF593	HGNC	protein_coding	OTTHUMT00000019842.2	G	NM_015871		26496564	+1	no_errors	ENST00000374266	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF596	169270	genome.wustl.edu	37	8	183047	183047	+	Intron	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr8:183047G>C	ENST00000398612.1	+	1	311				RPL23AP53_ENST00000606975.1_RNA|ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000521238.2_3'UTR|RP5-855D21.3_ENST00000609090.1_RNA|ZNF596_ENST00000308811.4_Intron|RP5-855D21.1_ENST00000606572.1_RNA	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGTGGATGTCGAGGTGGGGCA	0.577																																																	0																																										SO:0001627	intron_variant	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.-73+353G>C	8.37:g.183047G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8P4|O95015|Q8N9X0	RNA	SNP	-	NULL	ENST00000398612.1	37	NULL	CCDS5951.2	8																																																																																			ZNF596	-	-		0.577	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF596	HGNC	protein_coding	OTTHUMT00000195858.4	G	NM_173539		183047	+1	no_errors	ENST00000521238	ensembl	human	putative	70_37	rna	SNP	0.000	C
ZNF615	284370	genome.wustl.edu	37	19	52496447	52496447	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:52496447C>T	ENST00000602063.1	-	6	2231	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	ZNF615_ENST00000391795.3_Missense_Mutation_p.E633K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E639K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E628K|ZNF615_ENST00000598071.1_Missense_Mutation_p.E639K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	628					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(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTATCACATTCATTGCATTTG	0.393																																																	0													136.0	133.0	134.0					19																	52496447		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1882G>A	19.37:g.52496447C>T	ENSP00000473089:p.Glu628Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	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.E639K	ENST00000602063.1	37	c.1915	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117977	0.20877	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.16597	2.33;2.33	3.32	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.27823	0.19;0.158;0.158;0.19	B;B;B;B	0.24974	0.057;0.055;0.055;0.057	T	0.18304	-1.0341	9	0.49607	T	0.09	.	11.8743	0.52537	0.0:0.8213:0.1787:0.0	.	633;635;639;628	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	628;638;633;582	ENSP00000365906:E628K;ENSP00000375672:E633K	ENSP00000347019:E638K	E	-	1	0	ZNF615	57188259	0.000000	0.05858	0.053000	0.19242	0.592000	0.36648	0.023000	0.13533	1.848000	0.53677	0.655000	0.94253	GAA	ZNF615	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52496447	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.063	T
ZNF646	9726	genome.wustl.edu	37	16	31091918	31091918	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31091918C>G	ENST00000394979.2	+	1	4696	c.4273C>G	c.(4273-4275)Cca>Gca	p.P1425A	ZNF646_ENST00000300850.5_Missense_Mutation_p.P1425A			O15015	ZN646_HUMAN	zinc finger protein 646	1425					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGTGCTGAGCCAGTACCCCA	0.652																																																	0													43.0	45.0	44.0					16																	31091918		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4273C>G	16.37:g.31091918C>G	ENSP00000378429:p.Pro1425Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1425A	ENST00000394979.2	37	c.4273		16	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.327563	0.00229	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.06933	3.24;3.28	4.71	-5.57	0.02521	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	9	0.33940	T	0.23	1.0356	2.4079	0.04417	0.129:0.2771:0.3941:0.1999	.	1425	O15015-2	.	A	1425	ENSP00000300850:P1425A;ENSP00000378429:P1425A	ENSP00000300850:P1425A	P	+	1	0	ZNF646	30999419	0.000000	0.05858	0.087000	0.20705	0.086000	0.17979	-0.385000	0.07379	-1.016000	0.03371	-0.302000	0.09304	CCA	ZNF646	-	NULL		0.652	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31091918	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF646	9726	genome.wustl.edu	37	16	31092086	31092086	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31092086C>G	ENST00000394979.2	+	1	4864	c.4441C>G	c.(4441-4443)Cag>Gag	p.Q1481E	ZNF646_ENST00000300850.5_Missense_Mutation_p.Q1481E			O15015	ZN646_HUMAN	zinc finger protein 646	1481					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGGGTTCCTCAGTTCCTAAC	0.597																																																	0													52.0	65.0	60.0					16																	31092086		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4441C>G	16.37:g.31092086C>G	ENSP00000378429:p.Gln1481Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1481E	ENST00000394979.2	37	c.4441		16	.	.	.	.	.	.	.	.	.	.	C	2.381	-0.342153	0.05243	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08720	3.06;3.1	5.65	2.44	0.29823	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.34015	0.435	B	0.28011	0.085	T	0.40646	-0.9552	9	0.44086	T	0.13	-1.1327	8.8383	0.35126	0.0:0.6191:0.2998:0.0811	.	1481	O15015-2	.	E	1481	ENSP00000300850:Q1481E;ENSP00000378429:Q1481E	ENSP00000300850:Q1481E	Q	+	1	0	ZNF646	30999587	0.019000	0.18553	0.588000	0.28705	0.024000	0.10985	0.805000	0.27112	0.735000	0.32537	0.650000	0.86243	CAG	ZNF646	-	NULL		0.597	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31092086	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.079	G
ZNF646	9726	genome.wustl.edu	37	16	31092798	31092798	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr16:31092798C>G	ENST00000394979.2	+	1	5576	c.5153C>G	c.(5152-5154)tCt>tGt	p.S1718C	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1718C			O15015	ZN646_HUMAN	zinc finger protein 646	1718					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AACCTGCTGTCTCTTAAGAAC	0.627																																																	0													121.0	129.0	126.0					16																	31092798		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5153C>G	16.37:g.31092798C>G	ENSP00000378429:p.Ser1718Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1718C	ENST00000394979.2	37	c.5153		16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860333	0.71834	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.20200	2.09;2.09	5.8	5.8	0.92144	.	.	.	.	.	T	0.41373	0.1156	L	0.58428	1.81	0.43652	D	0.996062	D	0.76494	0.999	P	0.60236	0.871	T	0.03306	-1.1050	9	0.45353	T	0.12	-19.5513	18.8323	0.92145	0.0:1.0:0.0:0.0	.	1718	O15015-2	.	C	1718	ENSP00000300850:S1718C;ENSP00000378429:S1718C	ENSP00000300850:S1718C	S	+	2	0	ZNF646	31000299	0.128000	0.22383	1.000000	0.80357	0.986000	0.74619	2.576000	0.46033	2.755000	0.94549	0.655000	0.94253	TCT	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31092798	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF69	7620	genome.wustl.edu	37	19	12016506	12016506	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:12016506C>G	ENST00000429654.2	+	4	1434	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		CTCACACCTTCAATTGCATGG	0.448																																																	0																																										SO:0001583	missense	7620			X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.1294C>G	19.37:g.12016506C>G	ENSP00000402985:p.Gln432Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VA7	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.Q432E	ENST00000429654.2	37	c.1294		19	.	.	.	.	.	.	.	.	.	.	c	4.333	0.061206	0.08339	.	.	ENSG00000198429	ENST00000429654	T	0.35789	1.29	1.22	-2.43	0.06522	.	.	.	.	.	T	0.11922	0.0290	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	6	0.08599	T	0.76	.	0.798	0.01069	0.1683:0.2046:0.3356:0.2916	.	.	.	.	E	432	ENSP00000402985:Q432E	ENSP00000402985:Q432E	Q	+	1	0	ZNF69	11877506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-0.931000	0.03746	-0.493000	0.04662	CAA	ZNF69	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	ZNF69	HGNC	protein_coding	OTTHUMT00000344082.1	C	NM_021915		12016506	+1	no_errors	ENST00000429654	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF746	155061	genome.wustl.edu	37	7	149172453	149172453	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:149172453G>A	ENST00000340622.3	-	7	1237	c.957C>T	c.(955-957)ttC>ttT	p.F319F	ZNF746_ENST00000458143.2_Silent_p.F320F			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	319					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GACTAGGGAAGAACCGTGTGG	0.637																																																	0													49.0	52.0	51.0					7																	149172453		2203	4300	6503	SO:0001819	synonymous_variant	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.957C>T	7.37:g.149172453G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F320	ENST00000340622.3	37	c.960	CCDS5897.1	7																																																																																			ZNF746	-	NULL		0.637	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149172453	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	silent	SNP	0.018	A
ZNF770	54989	genome.wustl.edu	37	15	35274573	35274573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr15:35274573G>A	ENST00000356321.4	-	3	1407	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	355					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCTCAGATTGAAAGTTATCT	0.338																																																	0													24.0	26.0	25.0					15																	35274573		2187	4293	6480	SO:0001587	stop_gained	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1063C>T	15.37:g.35274573G>A	ENSP00000348673:p.Gln355*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q355*	ENST00000356321.4	37	c.1063	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047021	0.55110	.	.	ENSG00000198146	ENST00000356321	.	.	.	5.54	3.61	0.41365	.	1.593180	0.03998	U	0.295941	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.1204	4.0461	0.09773	0.1263:0.2337:0.5169:0.1231	.	.	.	.	X	355	.	ENSP00000348673:Q355X	Q	-	1	0	ZNF770	33061865	0.035000	0.19736	0.249000	0.24280	0.107000	0.19398	0.755000	0.26405	1.542000	0.49330	0.650000	0.86243	CAA	ZNF770	-	NULL		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	G	NM_014106		35274573	-1	no_errors	ENST00000356321	ensembl	human	known	70_37	nonsense	SNP	0.001	A
ZNF8	7554	genome.wustl.edu	37	19	58806608	58806608	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:58806608G>C	ENST00000196548.5	+	4	1565	c.1434G>C	c.(1432-1434)caG>caC	p.Q478H	ZNF8_ENST00000608843.1_Missense_Mutation_p.Q478H|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	478					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTTTCATTCAGAGCTCTCACC	0.557																																																	0													139.0	152.0	148.0					19																	58806608		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1434G>C	19.37:g.58806608G>C	ENSP00000196548:p.Gln478His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI99	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.Q478H	ENST00000196548.5	37	c.1434	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382007	0.42207	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.50548	0.74	4.58	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000290	T	0.38719	0.1051	L	0.41415	1.275	0.30703	N	0.750102	B	0.29909	0.261	B	0.37144	0.242	T	0.37126	-0.9719	10	0.38643	T	0.18	-17.1779	7.3805	0.26854	0.0:0.1808:0.6323:0.1869	.	478	P17098	ZNF8_HUMAN	H	478;193	ENSP00000196548:Q478H	ENSP00000196548:Q478H	Q	+	3	2	ZNF8	63498420	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.010000	0.12743	2.544000	0.85801	0.549000	0.68633	CAG	ZNF8	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806608	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.967	C
ZNF80	7634	genome.wustl.edu	37	3	113955149	113955149	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr3:113955149G>A	ENST00000482457.2	-	1	1276	c.773C>T	c.(772-774)tCt>tTt	p.S258F	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGCAAAAGCAGAGTGGTAGCC	0.403																																					GBM(23;986 1114 21716)												0													84.0	86.0	85.0					3																	113955149		2203	4300	6503	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.773C>T	3.37:g.113955149G>A	ENSP00000417192:p.Ser258Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NSW4|Q6NT14	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S258F	ENST00000482457.2	37	c.773	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456280	0.43634	.	.	ENSG00000174255	ENST00000482457	T	0.06449	3.3	2.72	0.799	0.18667	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	M	0.80982	2.52	0.09310	N	1	P	0.48911	0.917	P	0.46479	0.518	T	0.13308	-1.0514	9	0.72032	D	0.01	.	5.4737	0.16684	0.1283:0.2074:0.6643:0.0	.	258	P51504	ZNF80_HUMAN	F	258	ENSP00000417192:S258F	ENSP00000309812:S258F	S	-	2	0	ZNF80	115437839	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	-0.496000	0.06436	0.188000	0.20168	0.561000	0.74099	TCT	ZNF80	-	NULL		0.403	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	HGNC	protein_coding	OTTHUMT00000354696.2	G	NM_007136		113955149	-1	no_errors	ENST00000308095	ensembl	human	known	70_37	missense	SNP	0.005	A
ZNF804B	219578	genome.wustl.edu	37	7	88965996	88965996	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:88965996C>T	ENST00000333190.4	+	4	4309	c.3700C>T	c.(3700-3702)Cat>Tat	p.H1234Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1234							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTATTGCTCATCTACATCC	0.468										HNSCC(36;0.09)																																							0													211.0	181.0	192.0					7																	88965996		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3700C>T	7.37:g.88965996C>T	ENSP00000329638:p.His1234Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.H1234Y	ENST00000333190.4	37	c.3700	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539626	0.45176	.	.	ENSG00000182348	ENST00000333190	T	0.07327	3.2	4.84	4.84	0.62591	.	0.086926	0.49916	D	0.000125	T	0.26846	0.0657	M	0.65975	2.015	0.42070	D	0.991202	D	0.89917	1.0	D	0.63488	0.915	T	0.00849	-1.1541	10	0.62326	D	0.03	-16.9241	18.5005	0.90879	0.0:1.0:0.0:0.0	.	1234	A4D1E1	Z804B_HUMAN	Y	1234	ENSP00000329638:H1234Y	ENSP00000329638:H1234Y	H	+	1	0	ZNF804B	88803932	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	4.841000	0.62824	2.649000	0.89929	0.655000	0.94253	CAT	ZNF804B	-	NULL		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88965996	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF804B	219578	genome.wustl.edu	37	7	88966146	88966146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:88966146C>T	ENST00000333190.4	+	4	4459	c.3850C>T	c.(3850-3852)Cag>Tag	p.Q1284*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1284							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATAACACTTCAGCCTCTGCC	0.468										HNSCC(36;0.09)																																							0													225.0	198.0	207.0					7																	88966146		2203	4300	6503	SO:0001587	stop_gained	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3850C>T	7.37:g.88966146C>T	ENSP00000329638:p.Gln1284*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Q1284*	ENST00000333190.4	37	c.3850	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	45	12.051032	0.99631	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.29	5.29	0.74685	.	0.242001	0.30269	N	0.010016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-6.5563	19.1228	0.93371	0.0:1.0:0.0:0.0	.	.	.	.	X	1284	.	ENSP00000329638:Q1284X	Q	+	1	0	ZNF804B	88804082	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	5.269000	0.65542	2.739000	0.93911	0.655000	0.94253	CAG	ZNF804B	-	NULL		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88966146	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF841	284371	genome.wustl.edu	37	19	52579301	52579301	+	Intron	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:52579301G>A	ENST00000426391.2	-	5	475				ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Silent_p.I89I|ZNF841_ENST00000594295.1_Silent_p.I89I			Q6ZN19	ZN841_HUMAN	zinc finger protein 841						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)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTTACCGGTGATCACGCCTT	0.488																																																	0													115.0	104.0	107.0					19																	52579301		692	1591	2283	SO:0001627	intron_variant	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.77-8438C>T	19.37:g.52579301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I89	ENST00000426391.2	37	c.267		19																																																																																			ZNF841	-	NULL		0.488	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52579301	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF85	7639	genome.wustl.edu	37	19	21131586	21131586	+	Missense_Mutation	SNP	A	A	G			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:21131586A>G	ENST00000328178.8	+	4	379	c.266A>G	c.(265-267)gAg>gGg	p.E89G	ZNF85_ENST00000601023.1_Missense_Mutation_p.E30G|ZNF85_ENST00000345030.6_Missense_Mutation_p.E56G|ZNF85_ENST00000597314.1_3'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	89					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTGGCCGGAGCAGAATATA	0.328																																																	0													58.0	58.0	58.0					19																	21131586		2203	4299	6502	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.266A>G	19.37:g.21131586A>G	ENSP00000329793:p.Glu89Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP4|Q6NVI0	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.E89G	ENST00000328178.8	37	c.266	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	4.010	-0.000831	0.07819	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.07021	3.37;3.23	1.04	-2.09	0.07232	.	.	.	.	.	T	0.22399	0.0540	M	0.87971	2.92	0.09310	N	1	B;D;B	0.57899	0.033;0.981;0.239	B;D;B	0.65140	0.059;0.932;0.07	T	0.09552	-1.0669	9	0.49607	T	0.09	.	2.0498	0.03568	0.4442:0.0:0.301:0.2548	.	56;30;89	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	G	89;56	ENSP00000329793:E89G;ENSP00000342340:E56G	ENSP00000329793:E89G	E	+	2	0	ZNF85	20923426	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.035000	0.13797	-0.617000	0.05664	-0.640000	0.03970	GAG	ZNF85	-	NULL		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	A	NM_003429		21131586	+1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF845	91664	genome.wustl.edu	37	19	53855572	53855572	+	Silent	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:53855572G>A	ENST00000595091.1	+	5	1863	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	ZNF845_ENST00000458035.1_Silent_p.E548E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACTGGAGAGAAACCTTACC	0.408																																																	0													58.0	53.0	55.0					19																	53855572		692	1591	2283	SO:0001819	synonymous_variant	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1644G>A	19.37:g.53855572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E548	ENST00000595091.1	37	c.1644	CCDS46170.1	19																																																																																			ZNF845	-	pfscan_Znf_C2H2		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	G	XM_039908		53855572	+1	no_errors	ENST00000458035	ensembl	human	known	70_37	silent	SNP	0.998	A
ZNF92	168374	genome.wustl.edu	37	7	64863368	64863368	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:64863368G>A	ENST00000328747.7	+	4	540	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ZNF92_ENST00000357512.2_Missense_Mutation_p.R82K|ZNF92_ENST00000450302.2_Missense_Mutation_p.R45K|ZNF92_ENST00000431504.1_Missense_Mutation_p.R38K	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTACAGCTAAGAAAAGACCAT	0.368																																																	0													90.0	92.0	91.0					7																	64863368		2203	4299	6502	SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.341G>A	7.37:g.64863368G>A	ENSP00000332595:p.Arg114Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNF9|Q8N492|Q8NB35	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.R114K	ENST00000328747.7	37	c.341	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	G	6.157	0.397139	0.11638	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.04917	3.62;3.53;3.57;3.55	0.418	0.418	0.16429	.	.	.	.	.	T	0.04588	0.0125	L	0.31371	0.925	0.19775	N	0.99996	B;B	0.18461	0.028;0.009	B;B	0.20577	0.03;0.013	T	0.45963	-0.9225	9	0.19147	T	0.46	.	6.6212	0.22804	1.0E-4:0.0:0.9999:0.0	.	82;114	Q03936-3;Q03936	.;ZNF92_HUMAN	K	114;38;82;45	ENSP00000332595:R114K;ENSP00000400495:R38K;ENSP00000350113:R82K;ENSP00000396126:R45K	ENSP00000332595:R114K	R	+	2	0	ZNF92	64500803	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	0.111000	0.15458	0.452000	0.26830	0.460000	0.39030	AGA	ZNF92	-	NULL		0.368	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	G	NM_152626		64863368	+1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	0.618	A
ZNF93	81931	genome.wustl.edu	37	19	20044654	20044654	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr19:20044654C>A	ENST00000343769.5	+	4	918	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TTTAACCAATCCTCAACACTT	0.368																																																	0													35.0	39.0	37.0					19																	20044654		2199	4292	6491	SO:0001583	missense	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.890C>A	19.37:g.20044654C>A	ENSP00000342002:p.Ser297Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	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.S297Y	ENST00000343769.5	37	c.890	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	c	5.496	0.276602	0.10403	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01209	5.17	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	L	0.52011	1.625	0.09310	N	1	D	0.59357	0.985	P	0.58620	0.842	T	0.48670	-0.9015	9	0.25751	T	0.34	.	3.9855	0.09514	0.6161:0.3838:0.0:0.0	.	297	P35789	ZNF93_HUMAN	Y	297	ENSP00000342002:S297Y	ENSP00000342002:S297Y	S	+	2	0	ZNF93	19905654	0.000000	0.05858	0.181000	0.23098	0.180000	0.23129	-6.264000	0.00073	0.192000	0.20272	0.195000	0.17529	TCC	ZNF93	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	C	NM_031218		20044654	+1	no_errors	ENST00000343769	ensembl	human	known	70_37	missense	SNP	0.000	A
ZPBP	11055	genome.wustl.edu	37	7	50097646	50097646	+	Silent	SNP	G	G	A	rs199712637		TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr7:50097646G>A	ENST00000046087.2	-	4	495	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ZPBP_ENST00000491129.1_5'Flank|ZPBP_ENST00000419417.1_Silent_p.L141L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	142					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GTTTATATTCGAGGAAACATG	0.323													g|||	1	0.000199681	0.0	0.0	5008	,	,		19399	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)											102.0	102.0	102.0					7																	50097646		2203	4300	6503	SO:0001819	synonymous_variant	11055			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.426C>T	7.37:g.50097646G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.L142	ENST00000046087.2	37	c.426	CCDS5509.1	7																																																																																			ZPBP	-	pfam_Sp38-bd,pfscan_Ig-like		0.323	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	G	NM_007009		50097646	-1	no_errors	ENST00000046087	ensembl	human	known	70_37	silent	SNP	0.151	A
ZSWIM8	23053	genome.wustl.edu	37	10	75545731	75545731	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:75545731C>T	ENST00000605216.1	+	1	312	c.95C>T	c.(94-96)tCc>tTc	p.S32F	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S32F|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S32F|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S32F|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S32F	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	32							zinc ion binding (GO:0008270)										TCCTTCATCTCCGAGGCCGAG	0.627																																																	0													27.0	36.0	33.0					10																	75545731		2009	4155	6164	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.95C>T	10.37:g.75545731C>T	ENSP00000474748:p.Ser32Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.S32F	ENST00000605216.1	37	c.95		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670914|4.670914	0.88348|0.88348	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000446546|ENST00000398706	.|T	.|0.54675	.|0.56	4.62|4.62	3.71|3.71	0.42584|0.42584	.|.	.|.	.|.	.|.	.|.	T|T	0.64148|0.64148	0.2572|0.2572	M|M	0.75264|0.75264	2.295|2.295	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.62365	.|0.982;0.991;0.982	.|P;P;P	.|0.53266	.|0.722;0.722;0.722	T|T	0.70930|0.70930	-0.4738|-0.4738	5|9	.|0.87932	.|D	.|0	.|.	14.0652|14.0652	0.64824|0.64824	0.152:0.848:0.0:0.0|0.152:0.848:0.0:0.0	.|.	.|32;32;32	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	S|F	117|32	.|ENSP00000381693:S32F	.|ENSP00000381693:S32F	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75215737|75215737	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.994000|0.994000	0.84299|0.84299	7.107000|7.107000	0.77047|0.77047	1.145000|1.145000	0.42336|0.42336	0.555000|0.555000	0.69702|0.69702	CCG|TCC	ZSWIM8	-	NULL		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	C	NM_001242487		75545731	+1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	0.998	T
ZRANB1	54764	genome.wustl.edu	37	10	126673446	126673446	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr10:126673446G>A	ENST00000359653.4	+	9	2383	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	671					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TCTCGGCGGCGAAATCACCCC	0.547																																																	0													73.0	66.0	69.0					10																	126673446		2203	4300	6503	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2012G>A	10.37:g.126673446G>A	ENSP00000352676:p.Arg671Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.R671Q	ENST00000359653.4	37	c.2012	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277892	0.80692	.	.	ENSG00000019995	ENST00000359653	T	0.18174	2.23	5.27	5.27	0.74061	.	0.056759	0.64402	D	0.000001	T	0.16685	0.0401	L	0.44542	1.39	0.80722	D	1	D	0.57257	0.979	B	0.37346	0.247	T	0.02417	-1.1162	10	0.51188	T	0.08	-20.7387	19.0693	0.93126	0.0:0.0:1.0:0.0	.	671	Q9UGI0	ZRAN1_HUMAN	Q	671	ENSP00000352676:R671Q	ENSP00000352676:R671Q	R	+	2	0	ZRANB1	126663436	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	9.259000	0.95561	2.733000	0.93635	0.650000	0.86243	CGA	ZRANB1	-	NULL		0.547	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	G	NM_017580		126673446	+1	no_errors	ENST00000359653	ensembl	human	known	70_37	missense	SNP	1.000	A
ZYG11B	79699	genome.wustl.edu	37	1	53222190	53222190	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:53222190G>C	ENST00000294353.6	+	2	236	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	ZYG11B_ENST00000545132.1_Missense_Mutation_p.E31Q|RNU2-30P_ENST00000516209.1_RNA|ZYG11B_ENST00000443756.2_Missense_Mutation_p.E31Q	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	31										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACTCACCTTGAGAAGTTCTG	0.463																																																	0													130.0	125.0	127.0					1																	53222190		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.91G>C	1.37:g.53222190G>C	ENSP00000294353:p.Glu31Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E31Q	ENST00000294353.6	37	c.91	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275187	0.80580	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T	0.46819	0.87;0.86	4.89	4.89	0.63831	.	0.053279	0.85682	D	0.000000	T	0.61173	0.2326	L	0.52364	1.645	0.42816	D	0.993971	P;D	0.71674	0.867;0.998	P;D	0.66351	0.553;0.943	T	0.55263	-0.8168	10	0.23891	T	0.37	.	18.253	0.90011	0.0:0.0:1.0:0.0	.	31;31	B4DK95;Q9C0D3	.;ZY11B_HUMAN	Q	31	ENSP00000441315:E31Q;ENSP00000294353:E31Q	ENSP00000294353:E31Q	E	+	1	0	ZYG11B	52994778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.549000	0.85964	0.650000	0.86243	GAG	ZYG11B	-	NULL		0.463	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	G	NM_024646		53222190	+1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	C
ZYG11B	79699	genome.wustl.edu	37	1	53279239	53279239	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A3Q0-01A-11D-A21Q-09	TCGA-JX-A3Q0-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	262dcf4f-13c0-489e-a4c8-060e2eeaa8d7	bbc15cac-a3bb-4f25-beec-37c43caeeed1	g.chr1:53279239C>T	ENST00000294353.6	+	11	1872	c.1727C>T	c.(1726-1728)tCt>tTt	p.S576F	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Missense_Mutation_p.S506F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	576										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAATTACATTCTGAATTAATG	0.294																																																	0													49.0	47.0	47.0					1																	53279239		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1727C>T	1.37:g.53279239C>T	ENSP00000294353:p.Ser576Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S576F	ENST00000294353.6	37	c.1727	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583622	0.65992	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.50001	0.76;0.76	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.166845	0.53938	D	0.000058	T	0.61899	0.2384	L	0.49350	1.555	0.80722	D	1	D;P	0.61080	0.989;0.938	P;P	0.60789	0.879;0.672	T	0.62153	-0.6914	10	0.51188	T	0.08	.	18.8811	0.92356	0.0:1.0:0.0:0.0	.	506;576	B4DK95;Q9C0D3	.;ZY11B_HUMAN	F	506;576	ENSP00000400522:S506F;ENSP00000294353:S576F	ENSP00000294353:S576F	S	+	2	0	ZYG11B	53051827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.527000	0.45615	2.447000	0.82792	0.655000	0.94253	TCT	ZYG11B	-	superfamily_ARM-type_fold		0.294	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	C	NM_024646		53279239	+1	no_errors	ENST00000294353	ensembl	human	known	70_37	missense	SNP	1.000	T
